TTN titin

Canonical transcript: NM_133378

1190 unique variant annotations were identified in 622 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
2-179391825-G-A c.100186C>T p.Gln33396* Nonsense 312/312 - 2
2-179391828-TT-T c.100185del p.Lys33395Asnfs*9 Frameshift 312/312 - 3
2-179391848-A-G c.100163T>C p.Leu33388Pro Missense 312/312 - 1
2-179391875-A-T c.100136T>A p.Ile33379Asn Missense 312/312 - 1
2-179391878-T-G c.100133A>C p.His33378Pro Missense 312/312 - 1
2-179391926-CCATGTTACTTC-C c.100076_100086del p.Glu33359Valfs*18 Frameshift 312/312 - 1
2-179391962-C-T c.100049G>A p.Cys33350Tyr Missense 312/312 - 1
2-179391962-C-G c.100049G>C p.Cys33350Ser Missense 312/312 - 1
2-179391992-A-G c.100019T>C p.Ile33340Thr Missense 312/312 - 1
2-179392080-A-C c.99977-46T>G - IntronicSNV - 311/311 1
2-179392080-A-T c.99977-46T>A - IntronicSNV - 311/311 1
2-179392206-GA-G c.99943del p.Ser33315Glnfs*10 Frameshift 311/312 - 1
2-179392277-A-G c.99872T>C p.Met33291Thr Missense 311/312 - 2
2-179393344-T-G c.99430A>C p.Asn33144His Missense 309/312 - 1
2-179393500-G-A c.99274C>T p.Gln33092* Nonsense 309/312 - 1
2-179393803-C-G c.98971G>C p.Glu32991Gln Missense 309/312 - 1
2-179393859-A-G c.98915T>C p.Ile32972Thr Missense 309/312 - 1
2-179394707-C-T c.98807G>A p.Ser32936Asn Missense 308/312 - 1
2-179394801-C-T c.98713G>A p.Gly32905Arg Missense 308/312 - 1
2-179395035-AA-A c.98604del p.Ala32869Leufs*41 Frameshift 307/312 - 1
2-179395182-G-C c.98456C>G p.Ser32819* Nonsense 307/312 - 1
2-179395221-A-T c.98417T>A p.Phe32806Tyr Missense 307/312 - 1
2-179395717-T-G c.97921A>C p.Lys32641Gln Missense 307/312 - 1
2-179395813-C-T c.97825G>A p.Val32609Met Missense 307/312 - 2
2-179395958-T-C c.97680A>G p.Ala32560Ala Synonymous 307/312 - 1
2-179396252-G-T c.97386C>A p.Asp32462Glu Missense 307/312 - 1
2-179396252-G-A c.97386C>T p.Asp32462Asp Synonymous 307/312 - 1
2-179396259-G-A c.97379C>T p.Thr32460Met Missense 307/312 - 1
2-179396306-G-T c.97332C>A p.Tyr32444* Nonsense 307/312 - 1
2-179396314-C-T c.97324G>A p.Gly32442Arg Missense 307/312 - 1
2-179396329-G-A c.97309C>T p.His32437Tyr Missense 307/312 - 1
2-179396475-C-T c.97163G>A p.Gly32388Asp Missense 307/312 - 1
2-179396539-G-A c.97099C>T p.Pro32367Ser Missense 307/312 - 1
2-179396568-T-G c.97070A>C p.Glu32357Ala Missense 307/312 - 1
2-179397318-C-T c.96320G>A p.Arg32107Lys Missense 307/312 - 1
2-179397418-GGAG-G c.96220_96222del p.Pro32074del InFrameDeletion 307/312 - 1
2-179397561-C-T c.96077G>A p.Arg32026His Missense 307/312 - 2
2-179398050-G-C c.95588C>G p.Thr31863Arg Missense 307/312 - 1
2-179398050-G-A c.95588C>T p.Thr31863Met Missense 307/312 - 1
2-179398110-A-T c.95528T>A p.Ile31843Asn Missense 307/312 - 1
2-179398195-C-G c.95443G>C p.Glu31815Gln Missense 307/312 - 3
2-179398266-C-T c.95372G>A p.Ser31791Asn Missense 307/312 - 2
2-179398266-C-A c.95372G>T p.Ser31791Ile Missense 307/312 - 1
2-179398284-GTGTAGGGTT-G c.95346_95354del p.Thr31783_His31785del InFrameDeletion 307/312 - 1
2-179398443-G-A c.95195C>T p.Pro31732Leu Missense 307/312 - 1
2-179398515-C-T c.95123G>A p.Arg31708Gln Missense 307/312 - 1
2-179398628-ACG-TGA c.95008_95010delinsTCA p.Arg31670Ser Nonsense 307/312 - 1
2-179398747-T-C c.94891A>G p.Ile31631Val Missense 307/312 - 1
2-179398891-C-G c.94747G>C p.Gly31583Arg Missense 307/312 - 1
2-179399071-G-A c.94567C>T p.Arg31523Trp Missense 307/312 - 4
2-179399221-C-T c.94417G>A p.Glu31473Lys Missense 307/312 - 1
2-179399601-CT-AG c.94036_94037inv p.Arg31346Leu Missense 307/312 - 1
2-179399623-T-C c.94015A>G p.Ser31339Gly Missense 307/312 - 2
2-179399677-C-T c.93961G>A p.Val31321Ile Missense 307/312 - 2
2-179399809-A-G c.93829T>C p.Tyr31277His Missense 307/312 - 1
2-179399813-C-G c.93825G>C p.Lys31275Asn Missense 307/312 - 1
2-179399813-C-T c.93825G>A p.Lys31275Lys Synonymous 307/312 - 1
2-179400115-G-A c.93523C>T p.Arg31175* Nonsense 307/312 - 1
2-179400230-AA-A c.93409del p.Ser31137Leufs*4 Frameshift 307/312 - 1
2-179400235-G-T c.93403C>A p.Arg31135Arg Synonymous 307/312 - 1
2-179400235-G-A c.93403C>T p.Arg31135* Nonsense 307/312 - 1
2-179400790-C-T c.92980G>A p.Asp30994Asn Missense 306/312 - 1
2-179400959-T-TT c.92813dup p.Asn30938Lysfs*39 Frameshift 306/312 - 1
2-179401033-T-C c.92737A>G p.Ile30913Val Missense 306/312 - 1
2-179401230-G-A c.92540C>T p.Pro30847Leu Missense 306/312 - 2
2-179401931-G-GG c.92201dup p.Leu30735Serfs*16 Frameshift 305/312 - 1
2-179401965-G-A c.92167C>T p.Pro30723Ser Missense 305/312 - 1
2-179402066-T-A c.92161+3A>T - IntronicSNV - 304/311 1
2-179402164-T-G c.92066A>C p.Lys30689Thr Missense 304/312 - 1
2-179402171-C-T c.92059G>A p.Val30687Ile Missense 304/312 - 1
2-179403750-C-T c.91208G>A p.Arg30403His Missense 302/312 - 1
2-179403750-C-G c.91208G>C p.Arg30403Pro Missense 302/312 - 1
2-179403853-T-C c.91105A>G p.Lys30369Glu Missense 302/312 - 1
2-179403855-C-T c.91103G>A p.Arg30368His Missense 302/312 - 1
2-179403885-C-T c.91073G>A p.Gly30358Asp Missense 302/312 - 1
2-179404532-A-C c.90556T>G p.Ser30186Ala Missense 301/312 - 1
2-179404550-G-A c.90538C>T p.Arg30180Cys Missense 301/312 - 1
2-179404688-GG-G c.90401del p.Pro30134Leufs*15 Frameshift 301/312 - 1
2-179404802-T-G c.90387A>C p.Glu30129Asp Missense 300/312 - 1
2-179405071-T-C c.90118A>G p.Arg30040Gly Missense 300/312 - 1
2-179405807-A-G c.90091+202T>C - IntronicSNV - 299/311 1
2-179405807-A-T c.90091+202T>A - IntronicSNV - 299/311 1
2-179406191-C-T c.89909G>A p.Arg29970His Missense 299/312 - 1
2-179406305-G-T c.89795C>A p.Pro29932His Missense 299/312 - 1
2-179406993-A-G c.89786T>C p.Ile29929Thr Missense 298/312 - 1
2-179407042-C-T c.89737G>A p.Gly29913Arg Missense 298/312 - 1
2-179407285-G-T c.89494C>A p.Pro29832Thr Missense 298/312 - 1
2-179407472-G-T c.89405C>A p.Thr29802Asn Missense 297/312 - 1
2-179407529-T-A c.89348A>T p.Glu29783Val Missense 297/312 - 1
2-179407574-G-A c.89303C>T p.Pro29768Leu Missense 297/312 - 1
2-179407641-T-C c.89236A>G p.Lys29746Glu Missense 297/312 - 1
2-179407837-G-C c.89159C>G p.Pro29720Arg Missense 296/312 - 1
2-179408012-C-T c.88984G>A p.Gly29662Ser Missense 296/312 - 1
2-179408116-T-G c.88880A>C p.Asp29627Ala Missense 296/312 - 1
2-179408585-C-T c.88582G>A p.Ala29528Thr Missense 295/312 - 1
2-179408713-A-G c.88454T>C p.Ile29485Thr Missense 295/312 - 1
2-179408836-G-A c.88331C>T p.Pro29444Leu Missense 295/312 - 1
2-179409010-G-A c.88242C>T p.Ser29414Ser Synonymous 294/312 - 1
2-179410226-T-C c.87907A>G p.Thr29303Ala Missense 293/312 - 1
2-179410252-A-G c.87881T>C p.Val29294Ala Missense 293/312 - 1
2-179410261-T-G c.87872A>C p.Lys29291Thr Missense 293/312 - 1
2-179410276-C-G c.87857G>C p.Trp29286Ser Missense 293/312 - 1
2-179410376-TT-T c.87759del p.Glu29254Serfs*22 Frameshift 293/312 - 1
2-179410666-G-T c.87593C>A p.Ser29198Tyr Missense 292/312 - 1
2-179410666-G-A c.87593C>T p.Ser29198Phe Missense 292/312 - 1
2-179410776-C-G c.87483G>C p.Trp29161Cys Missense 292/312 - 1
2-179410837-G-T c.87422C>A p.Pro29141His Missense 292/312 - 1
2-179410837-G-C c.87422C>G p.Pro29141Arg Missense 292/312 - 1
2-179410975-C-T c.87379G>A p.Gly29127Arg Missense 291/312 - 1
2-179411665-A-G c.86819-33T>C - IntronicSNV - 289/311 5
2-179412550-T-G c.86099A>C p.Lys28700Thr Missense 288/312 - 1
2-179412570-T-TT c.86079dup p.Val28694Serfs*21 Frameshift 288/312 - 1
2-179412628-C-T c.86021G>A p.Arg28674His Missense 288/312 - 1
2-179412783-A-T c.85866T>A p.Asn28622Lys Missense 288/312 - 1
2-179413099-G-A c.85550C>T p.Pro28517Leu Missense 288/312 - 2
2-179413540-C-G c.85109G>C p.Arg28370Thr Missense 288/312 - 1
2-179413541-T-TT c.85108dup p.Arg28370Lysfs*15 Frameshift 288/312 - 1
2-179413568-C-T c.85081G>A p.Ala28361Thr Missense 288/312 - 1
2-179413874-C-CA c.84774_84775insT p.Val28259Cysfs*22 Frameshift 288/312 - 1
2-179414177-G-A c.84472C>T p.Pro28158Ser Missense 288/312 - 1
2-179414318-C-T c.84427G>A p.Val28143Met Missense 287/312 - 1
2-179414318-C-G c.84427G>C p.Val28143Leu Missense 287/312 - 1
2-179414539-A-G c.84206T>C p.Met28069Thr Missense 287/312 - 1
2-179416868-CTCC-C c.83060_83062del p.Gly27687del InFrameDeletion 284/312 - 1
2-179416951-A-G c.82972T>C p.Ser27658Pro Missense 284/312 - 1
2-179417899-A-G c.82024T>C p.Tyr27342His Missense 284/312 - 1
2-179418382-C-A c.81646G>T p.Val27216Phe Missense 283/312 - 1
2-179418418-C-T c.81610G>A p.Glu27204Lys Missense 283/312 - 1
2-179418743-T-A c.81391A>T p.Thr27131Ser Missense 282/312 - 1
2-179418854-C-T c.81280G>A p.Gly27094Ser Missense 282/312 - 1
2-179418865-A-G c.81269T>C p.Ile27090Thr Missense 282/312 - 1
2-179419306-C-G c.81064G>C p.Glu27022Gln Missense 281/312 - 1
2-179419332-C-T c.81038G>A p.Trp27013* Nonsense 281/312 - 1
2-179419353-C-T c.81017G>A p.Arg27006His Missense 281/312 - 1
2-179419366-T-C c.81004A>G p.Ile27002Val Missense 281/312 - 1
2-179419690-A-C c.80792T>G p.Leu26931Arg Missense 280/312 - 1
2-179419875-ACC-TGA c.80605_80607delinsTCA p.Gly26869Ser Nonsense 280/312 - 1
2-179421691-GA-G c.80486del p.Ile26829Thrfs*4 Frameshift 279/312 - 1
2-179421694-A-G c.80483T>C p.Ile26828Thr Missense 279/312 - 3
2-179421758-G-A c.80419C>T p.Arg26807Cys Missense 279/312 - 1
2-179422082-T-C c.80203A>G p.Ser26735Gly Missense 278/312 - 1
2-179422481-C-G c.79896G>C p.Met26632Ile Missense 277/312 - 1
2-179422481-C-T c.79896G>A p.Met26632Ile Missense 277/312 - 1
2-179422669-G-T c.79708C>A p.Pro26570Thr Missense 277/312 - 1
2-179424583-T-A c.78572A>T p.Glu26191Val Missense 275/312 - 1
2-179424716-G-A c.78439C>T p.Leu26147Leu Synonymous 275/312 - 1
2-179424755-T-C c.78400A>G p.Ile26134Val Missense 275/312 - 1
2-179424835-G-A c.78320C>T p.Pro26107Leu Missense 275/312 - 1
2-179424862-G-A c.78293C>T p.Thr26098Ile Missense 275/312 - 1
2-179425063-C-T c.78092G>A p.Arg26031His Missense 275/312 - 1
2-179425063-C-G c.78092G>C p.Arg26031Pro Missense 275/312 - 1
2-179425208-G-T c.77947C>A p.Pro25983Thr Missense 275/312 - 1
2-179425439-G-A c.77716C>T p.Arg25906Cys Missense 275/312 - 2
2-179425453-G-C c.77702C>G p.Ser25901Cys Missense 275/312 - 1
2-179425576-T-G c.77579A>C p.Tyr25860Ser Missense 275/312 - 1
2-179425919-C-T c.77236G>A p.Val25746Ile Missense 275/312 - 1
2-179426079-T-G c.77076A>C p.Glu25692Asp Missense 275/312 - 1
2-179426305-C-T c.76850G>A p.Arg25617Gln Missense 275/312 - 1
2-179426506-C-T c.76649G>A p.Arg25550His Missense 275/312 - 1
2-179426506-C-A c.76649G>T p.Arg25550Leu Missense 275/312 - 1
2-179426596-C-T c.76559G>A p.Ser25520Asn Missense 275/312 - 1
2-179426759-TCATA-T c.76393_76396del p.Tyr25465Asnfs*11 Frameshift 275/312 - 1
2-179426782-TG-T c.76373del p.Ser25458* Frameshift 275/312 - 1
2-179427043-A-AA c.76113dup p.Asn25372* Nonsense 275/312 - 1
2-179427119-T-C c.76036A>G p.Thr25346Ala Missense 275/312 - 1
2-179427186-A-G c.75969T>C p.Gly25323Gly Synonymous 275/312 - 1
2-179427536-T-C c.75619A>G p.Ile25207Val Missense 275/312 - 5
2-179428172-G-A c.74983C>T p.Arg24995Cys Missense 275/312 - 1
2-179428172-G-T c.74983C>A p.Arg24995Ser Missense 275/312 - 1
2-179428313-A-T c.74842T>A p.Trp24948Arg Missense 275/312 - 1
2-179428314-T-A c.74841A>T p.Arg24947Ser Missense 275/312 - 1
2-179428314-T-G c.74841A>C p.Arg24947Ser Missense 275/312 - 1
2-179428522-G-A c.74633C>T p.Ala24878Val Missense 275/312 - 1
2-179428584-C-G c.74571G>C p.Gln24857His Missense 275/312 - 1
2-179428584-C-A c.74571G>T p.Gln24857His Missense 275/312 - 1
2-179428778-G-C c.74377C>G p.Pro24793Ala Missense 275/312 - 1
2-179428789-G-C c.74366C>G p.Thr24789Arg Missense 275/312 - 2
2-179428840-A-T c.74315T>A p.Ile24772Lys Missense 275/312 - 1
2-179428960-C-T c.74195G>A p.Arg24732His Missense 275/312 - 1
2-179430391-C-A c.72764G>T p.Gly24255Val Missense 275/312 - 1
2-179430592-C-G c.72563G>C p.Arg24188Thr Missense 275/312 - 1
2-179430650-A-T c.72505T>A p.Cys24169Ser Missense 275/312 - 1
2-179430997-G-A c.72158C>T p.Thr24053Met Missense 275/312 - 1
2-179430997-G-T c.72158C>A p.Thr24053Lys Missense 275/312 - 1
2-179431057-C-G c.72098G>C p.Gly24033Ala Missense 275/312 - 1
2-179431552-C-T c.71603G>A p.Cys23868Tyr Missense 275/312 - 1
2-179431736-A-G c.71419T>C p.Ser23807Pro Missense 275/312 - 1
2-179431930-G-A c.71225C>T p.Pro23742Leu Missense 275/312 - 1
2-179432130-TCTTT-T c.71024_71027del p.Lys23675Thrfs*10 Frameshift 275/312 - 1
2-179432185-A-G c.70970T>C p.Ile23657Thr Missense 275/312 - 4
2-179432576-G-C c.70579C>G p.Pro23527Ala Missense 275/312 - 1
2-179432699-T-G c.70456A>C p.Asn23486His Missense 275/312 - 1
2-179432729-T-C c.70426A>G p.Ile23476Val Missense 275/312 - 1
2-179432764-C-G c.70391G>C p.Arg23464Thr Missense 275/312 - 1
2-179433011-G-A c.70144C>T p.Leu23382Phe Missense 275/312 - 1
2-179433011-G-C c.70144C>G p.Leu23382Val Missense 275/312 - 1
2-179433046-C-G c.70109G>C p.Trp23370Ser Missense 275/312 - 1
2-179433172-C-A c.69983G>T p.Gly23328Val Missense 275/312 - 1
2-179433257-A-G c.69898T>C p.Tyr23300His Missense 275/312 - 1
2-179434186-T-A c.68969A>T p.Asp22990Val Missense 275/312 - 1
2-179434249-C-T c.68906G>A p.Arg22969His Missense 275/312 - 1
2-179434477-A-G c.68678T>C p.Ile22893Thr Missense 275/312 - 1
2-179434795-T-C c.68360A>G p.His22787Arg Missense 275/312 - 1
2-179435018-C-A c.68137G>T p.Ala22713Ser Missense 275/312 - 1
2-179435035-T-C c.68120A>G p.Tyr22707Cys Missense 275/312 - 1
2-179435133-CC-C c.68023del p.Glu22675Lysfs*8 Frameshift 275/312 - 1
2-179435337-T-G c.67818A>C p.Ala22606Ala Synonymous 275/312 - 1
2-179435337-T-C c.67818A>G p.Ala22606Ala Synonymous 275/312 - 1
2-179435636-G-A c.67519C>T p.His22507Tyr Missense 275/312 - 1
2-179435891-C-T c.67264G>A p.Gly22422Ser Missense 275/312 - 1
2-179435964-T-G c.67191A>C p.Gln22397His Missense 275/312 - 1
2-179436020-G-A c.67135C>T p.Arg22379Cys Missense 275/312 - 2
2-179436332-T-C c.66823A>G p.Asn22275Asp Missense 275/312 - 1
2-179436532-T-C c.66623A>G p.Lys22208Arg Missense 275/312 - 1
2-179436870-C-A c.66285G>T p.Trp22095Cys Missense 275/312 - 1
2-179437292-G-A c.65863C>T p.Pro21955Ser Missense 275/312 - 1
2-179437342-C-T c.65813G>A p.Gly21938Asp Missense 275/312 - 1
2-179437474-CC-C c.65683del p.Ala21895Profs*8 Frameshift 275/312 - 1
2-179437819-G-A c.65336C>T p.Pro21779Leu Missense 275/312 - 1
2-179438185-G-A c.64970C>T p.Pro21657Leu Missense 275/312 - 1
2-179438273-G-A c.64882C>T p.Arg21628Cys Missense 275/312 - 1
2-179438480-C-T c.64675G>A p.Glu21559Lys Missense 275/312 - 1
2-179438866-C-T c.64289G>A p.Arg21430His Missense 275/312 - 1
2-179439104-T-C c.64051A>G p.Met21351Val Missense 275/312 - 1
2-179439154-A-G c.64001T>C p.Ile21334Thr Missense 275/312 - 1
2-179439490-C-T c.63665G>A p.Arg21222His Missense 275/312 - 1
2-179439497-C-T c.63658G>A p.Ala21220Thr Missense 275/312 - 1
2-179439503-A-G c.63652T>C p.Tyr21218His Missense 275/312 - 1
2-179439628-A-G c.63527T>C p.Val21176Ala Missense 275/312 - 1
2-179439716-C-T c.63439G>A p.Val21147Ile Missense 275/312 - 1
2-179440231-T-A c.62924A>T p.Asp20975Val Missense 275/312 - 1
2-179440422-C-T c.62733G>A p.Arg20911Arg Synonymous 275/312 - 1
2-179440571-C-T c.62584G>A p.Val20862Ile Missense 275/312 - 1
2-179440970-T-C c.62185A>G p.Arg20729Gly Missense 275/312 - 2
2-179441113-A-C c.62042T>G p.Val20681Gly Missense 275/312 - 1
2-179441148-G-C c.62012-5C>G - IntronicSNV - 274/311 1
2-179441463-C-T c.61804G>A p.Glu20602Lys Missense 274/312 - 1
2-179441724-C-T c.61634G>A p.Arg20545Gln Missense 273/312 - 1
2-179441985-A-G c.61373T>C p.Phe20458Ser Missense 273/312 - 1
2-179442198-C-G c.61160G>C p.Gly20387Ala Missense 273/312 - 1
2-179442720-G-A c.60818C>T p.Pro20273Leu Missense 271/312 - 1
2-179442784-C-G c.60754G>C p.Ala20252Pro Missense 271/312 - 2
2-179443416-T-G c.60547A>C p.Asn20183His Missense 270/312 - 1
2-179443559-T-C c.60494A>G p.Glu20165Gly Missense 269/312 - 1
2-179444121-C-G c.59933-1G>C - IntronicSNV - 268/311 1
2-179444666-G-A c.59644C>T p.Gln19882* Nonsense 267/312 - 1
2-179444768-C-G c.59542G>C p.Ala19848Pro Missense 267/312 - 2
2-179444926-AA-A c.59385del p.Lys19796Argfs*24 Frameshift 267/312 - 1
2-179444939-C-T c.59371G>A p.Val19791Ile Missense 267/312 - 2
2-179445051-AA-A c.59352del p.Asp19785Ilefs*9 Frameshift 266/312 - 1
2-179446300-A-T c.58991T>A p.Val19664Glu Missense 265/312 - 1
2-179446303-C-T c.58988G>A p.Arg19663His Missense 265/312 - 1
2-179446303-C-A c.58988G>T p.Arg19663Leu Missense 265/312 - 1
2-179446666-C-T c.58726G>A p.Ala19576Thr Missense 264/312 - 1
2-179446775-TT-T c.58620del p.Lys19540Asnfs*4 Frameshift 264/312 - 1
2-179447693-G-C c.58133C>G p.Ser19378* Nonsense 262/312 - 1
2-179447848-T-G c.57978A>C p.Thr19326Thr Synonymous 262/312 - 1
2-179447848-T-C c.57978A>G p.Thr19326Thr Synonymous 262/312 - 1
2-179447848-T-A c.57978A>T p.Thr19326Thr Synonymous 262/312 - 1
2-179447901-C-A c.57925G>T p.Ala19309Ser Missense 262/312 - 2
2-179449096-G-C c.57478C>G p.Leu19160Val Missense 260/312 - 1
2-179449131-G-A c.57443C>T p.Ser19148Leu Missense 260/312 - 1
2-179449186-G-A c.57388C>T p.Arg19130Cys Missense 260/312 - 1
2-179449606-C-T c.57058G>A p.Gly19020Arg Missense 259/312 - 1
2-179449998-A-C c.56769T>G p.Tyr18923* Nonsense 258/312 - 1
2-179449998-A-T c.56769T>A p.Tyr18923* Nonsense 258/312 - 1
2-179450063-T-C c.56704A>G p.Ile18902Val Missense 258/312 - 1
2-179451420-G-A c.56504C>T p.Thr18835Ile Missense 257/312 - 4
2-179452470-C-A c.55862G>T p.Gly18621Val Missense 255/312 - 1
2-179452695-C-T c.55735G>A p.Ala18579Thr Missense 254/312 - 2
2-179453288-G-A c.55460C>T p.Pro18487Leu Missense 253/312 - 1
2-179453397-G-A c.55351C>T p.Pro18451Ser Missense 253/312 - 1
2-179453553-G-A c.55195C>T p.Pro18399Ser Missense 253/312 - 1
2-179454394-A-G c.54354T>C p.Tyr18118Tyr Synonymous 253/312 - 2
2-179454576-G-A c.54172C>T p.Arg18058* Nonsense 253/312 - 1
2-179455207-T-C c.53541A>G p.Thr17847Thr Synonymous 253/312 - 1
2-179455401-C-A c.53347G>T p.Ala17783Ser Missense 253/312 - 1
2-179455602-T-TC c.53145_53146insG p.Thr17716Aspfs*2 Frameshift 253/312 - 1
2-179455631-G-A c.53117C>T p.Pro17706Leu Missense 253/312 - 2
2-179455839-T-C c.52909A>G p.Ile17637Val Missense 253/312 - 1
2-179455902-C-T c.52846G>A p.Val17616Ile Missense 253/312 - 1
2-179455928-G-A c.52820C>T p.Pro17607Leu Missense 253/312 - 1
2-179456501-T-G c.52341A>C p.Glu17447Asp Missense 252/312 - 1
2-179457145-C-T c.51883G>A p.Ala17295Thr Missense 250/312 - 1
2-179457147-G-A c.51881C>T p.Pro17294Leu Missense 250/312 - 2
2-179457367-C-T c.51661G>A p.Asp17221Asn Missense 250/312 - 1
2-179457532-GG-G c.51611del p.Pro17204Argfs*5 Frameshift 249/312 - 1
2-179458002-G-A c.51229C>T p.Leu17077Leu Synonymous 248/312 - 1
2-179458477-A-G c.50846T>C p.Ile16949Thr Missense 247/312 - 1
2-179458511-C-G c.50812G>C p.Asp16938His Missense 247/312 - 1
2-179458568-C-A c.50755G>T p.Val16919Phe Missense 247/312 - 1
2-179458591-C-T c.50732G>A p.Arg16911His Missense 247/312 - 1
2-179458591-C-A c.50732G>T p.Arg16911Leu Missense 247/312 - 1
2-179459377-C-T c.50144-4G>A - IntronicSNV - 244/311 1
2-179460228-A-T c.50143+6T>A - IntronicSNV - 244/311 1
2-179460249-T-C c.50128A>G p.Ile16710Val Missense 244/312 - 1
2-179462142-A-G c.49840+123T>C - IntronicSNV - 243/311 1
2-179462318-A-G c.49787T>C p.Leu16596Pro Missense 243/312 - 1
2-179462367-T-C c.49738A>G p.Met16580Val Missense 243/312 - 1
2-179462494-A-G c.49611T>C p.His16537His Synonymous 243/312 - 1
2-179462735-C-T c.49458G>A p.Lys16486Lys Synonymous 242/312 - 1
2-179463490-C-T c.49243G>A p.Ala16415Thr Missense 240/312 - 3
2-179463751-C-T c.48982G>A p.Val16328Met Missense 240/312 - 1
2-179464373-G-A c.48551C>T p.Pro16184Leu Missense 238/312 - 1
2-179464527-T-C c.48397A>G p.Asn16133Asp Missense 238/312 - 4
2-179464527-T-A c.48397A>T p.Asn16133Tyr Missense 238/312 - 4
2-179465601-A-AA c.48326dup p.Thr16110Aspfs*12 Frameshift 237/312 - 1
2-179466171-T-C c.47849A>G p.Lys15950Arg Missense 236/312 - 1
2-179466177-A-AA c.47844dup p.Glu15949* Nonsense 236/312 - 1
2-179466466-G-A c.47647C>T p.Arg15883* Nonsense 235/312 - 1
2-179466793-A-C c.47501T>G p.Ile15834Ser Missense 233/312 - 1
2-179467246-G-A c.47179C>T p.Pro15727Ser Missense 232/312 - 1
2-179467316-A-C c.47109T>G p.Phe15703Leu Missense 232/312 - 1
2-179468909-G-T c.46801C>A p.Pro15601Thr Missense 231/312 - 1
2-179469502-C-T c.46610G>A p.Arg15537His Missense 230/312 - 2
2-179469837-G-A c.46363C>T p.Arg15455* Nonsense 229/312 - 1
2-179472202-T-A c.45509A>T p.Asp15170Val Missense 226/312 - 1
2-179472292-T-A c.45419A>T p.Lys15140Ile Missense 226/312 - 1
2-179472320-G-A c.45391C>T p.Arg15131Cys Missense 226/312 - 1
2-179472763-G-A c.45047C>T p.Thr15016Ile Missense 225/312 - 1
2-179472905-CAGAT-C c.44998_45001del p.Ile15000Leufs*20 SpliceDonorDeletion 224/312 - 1
2-179472938-G-A c.44968C>T p.Pro14990Ser Missense 224/312 - 1
2-179473074-G-C c.44832C>G p.Asn14944Lys Missense 224/312 - 1
2-179473586-AGGTCTTTCTGATATCTTCAA-A c.44430_44449del p.Glu14811Serfs*4 Frameshift 223/312 - 1
2-179473599-T-A c.44435A>T p.Asp14812Val Missense 223/312 - 1
2-179474228-C-A c.44105G>T p.Ser14702Ile Missense 222/312 - 2
2-179474623-C-G c.43823G>C p.Gly14608Ala Missense 221/312 - 1
2-179474668-G-A c.43778C>T p.Ala14593Val Missense 221/312 - 1
2-179474921-A-ATA c.43628_43629insAT p.Ile14544Serfs*25 Frameshift 220/312 - 5
2-179474996-C-G c.43553G>C p.Arg14518Pro Missense 220/312 - 1
2-179474996-C-T c.43553G>A p.Arg14518His Missense 220/312 - 1
2-179476545-C-T c.42787G>A p.Glu14263Lys Missense 217/312 - 1
2-179476887-T-C c.42547A>G p.Thr14183Ala Missense 216/312 - 1
2-179477940-TCC-TGT c.41890_41891delinsAC p.Gly13964Thr Missense 213/312 - 1
2-179479230-A-C c.41307T>G p.Cys13769Trp Missense 210/312 - 1
2-179479288-A-G c.41249T>C p.Ile13750Thr Missense 210/312 - 2
2-179479607-G-A c.41023C>T p.Pro13675Ser Missense 209/312 - 1
2-179480172-C-T c.40796G>A p.Arg13599Gln Missense 208/312 - 1
2-179480410-G-A c.40714C>T p.Pro13572Ser Missense 207/312 - 1
2-179481235-G-A c.40579C>T p.Arg13527* Nonsense 206/312 - 1
2-179481355-G-A c.40459C>T p.Arg13487Cys Missense 206/312 - 1
2-179481548-G-A c.40364C>T p.Ser13455Phe Missense 205/312 - 1
2-179481602-G-C c.40310C>G p.Thr13437Arg Missense 205/312 - 1
2-179482584-G-A c.39790C>T p.Arg13264* Nonsense 202/312 - 1
2-179482937-C-T c.39544G>A p.Val13182Ile Missense 201/312 - 1
2-179482994-G-A c.39487C>T p.Arg13163Cys Missense 201/312 - 2
2-179483430-G-C c.39143C>G p.Thr13048Arg Missense 200/312 - 1
2-179483430-G-A c.39143C>T p.Thr13048Met Missense 200/312 - 1
2-179483495-G-T c.39078C>A p.Tyr13026* Nonsense 200/312 - 1
2-179483495-G-A c.39078C>T p.Tyr13026Tyr Synonymous 200/312 - 1
2-179484555-C-A c.38785G>T p.Val12929Phe Missense 199/312 - 1
2-179484757-C-G c.38683G>C p.Gly12895Arg Missense 198/312 - 1
2-179484757-C-T c.38683G>A p.Gly12895Arg Missense 198/312 - 1
2-179485183-C-G c.38361G>C p.Lys12787Asn Missense 197/312 - 1
2-179485700-G-A c.37933C>T p.Pro12645Ser Missense 196/312 - 1
2-179485865-CC-C c.37879del p.Ala12627Profs*8 Frameshift 195/312 - 1
2-179485934-C-G c.37807G>C p.Gly12603Arg Missense 195/312 - 1
2-179486037-C-A c.37704G>T p.Lys12568Asn Missense 195/312 - 1
2-179486223-C-T c.37624G>A p.Asp12542Asn Missense 194/312 - 2
2-179486345-T-A c.37502A>T p.Glu12501Val Missense 194/312 - 1
2-179487495-C-T c.37112-1G>A - IntronicSNV - 191/311 1
2-179488194-C-T c.37112-700G>A - IntronicSNV - 191/311 2
2-179488194-C-A c.37112-700G>T - IntronicSNV - 191/311 1
2-179489726-A-G c.36845-268T>C - IntronicSNV - 190/311 1
2-179491235-T-G c.36721-1112A>C - IntronicSNV - 189/311 1
2-179495857-G-A c.36214C>T p.Arg12072Cys Missense 186/312 - 1
2-179497090-T-TT c.35828dup p.Glu11944Glyfs*12 Frameshift 185/312 - 1
2-179498042-T-C c.35254A>G p.Lys11752Glu Missense 182/312 - 1
2-179498303-T-C c.35079A>G p.Lys11693Lys Synonymous 181/312 - 1
2-179498303-T-A c.35079A>T p.Lys11693Asn Missense 181/312 - 1
2-179498627-A-AC c.34894_34895insG p.Met11632Serfs*8 Frameshift 180/312 - 1
2-179499252-A-T c.34552T>A p.Ser11518Thr Missense 179/312 - 1
2-179499525-C-G c.34372G>C p.Val11458Leu Missense 178/312 - 1
2-179500738-C-T c.33856G>A p.Val11286Met Missense 175/312 - 1
2-179501234-G-C c.33516C>G p.Asp11172Glu Missense 174/312 - 1
2-179501350-A-G c.33400T>C p.Ser11134Pro Missense 174/312 - 1
2-179501463-C-T c.33287G>A p.Gly11096Asp Missense 174/312 - 1
2-179505896-A-G c.32929+72T>C - IntronicSNV - 169/311 1
2-179506017-T-G c.32880A>C p.Glu10960Asp Missense 169/312 - 1
2-179506964-C-G c.32854G>C p.Val10952Leu Missense 168/312 - 3
2-179506964-C-T c.32854G>A p.Val10952Ile Missense 168/312 - 1
2-179514433-T-C c.32593+111A>G - IntronicSNV - 165/311 1
2-179515472-G-A c.32407+6C>T - IntronicSNV - 163/311 1
2-179516234-C-T c.32191G>A p.Glu10731Lys Missense 161/312 - 1
2-179516235-A-AA c.32190dup p.Glu10731* Nonsense 161/312 - 1
2-179516580-G-C c.32077+31C>G - IntronicSNV - 159/311 1
2-179516828-G-C c.31988C>G p.Pro10663Arg Missense 158/312 - 1
2-179517036-C-T c.31864G>A p.Val10622Met Missense 157/312 - 1
2-179518860-C-T c.31742-1592G>A - IntronicSNV - 155/311 1
2-179523514-T-A c.31741+218A>T - IntronicSNV - 155/311 1
2-179523753-G-A c.31720C>T p.Pro10574Ser Missense 155/312 - 1
2-179528068-C-A c.31484-286G>T - IntronicSNV - 152/311 1
2-179529497-T-G c.31484-1715A>C - IntronicSNV - 152/311 1
2-179533609-A-C c.31483+1336T>G - IntronicSNV - 152/311 1
2-179536780-TCT-CAT c.31241_31242delinsTG p.Arg10414Met Missense 150/312 - 1
2-179537200-C-T c.30961G>A p.Val10321Ile Missense 149/312 - 1
2-179537203-C-A c.30958G>T p.Glu10320* Nonsense 149/312 - 1
2-179539088-TTCT-T c.30760_30762del p.Glu10254del InFrameDeletion 146/312 - 1
2-179542393-C-CA c.30513_30514insT p.Glu10172* Nonsense 143/312 - 1
2-179542422-G-A c.30485C>T p.Pro10162Leu Missense 143/312 - 1
2-179542464-G-A c.30443C>T p.Pro10148Leu Missense 143/312 - 1
2-179545859-C-T c.29555G>A p.Arg9852His Missense 135/312 - 3
2-179547469-C-T c.29317G>A p.Glu9773Lys Missense 132/312 - 1
2-179547491-A-T c.29295T>A p.Tyr9765* Nonsense 132/312 - 1
2-179548729-T-C c.29071A>G p.Lys9691Glu Missense 130/312 - 1
2-179549407-G-A c.28892C>T p.Pro9631Leu Missense 128/312 - 1
2-179549988-G-A c.28730C>T p.Pro9577Leu Missense 126/312 - 3
2-179552868-C-T c.28549G>A p.Glu9517Lys Missense 124/312 - 1
2-179553917-G-A c.28280-54C>T - IntronicSNV - 121/311 1
2-179554305-C-T c.28132G>A p.Gly9378Arg Missense 120/312 - 3
2-179554624-C-T c.28031-1G>A - IntronicSNV - 118/311 1
2-179556748-G-T c.28025C>A p.Pro9342Gln Missense 118/312 - 1
2-179557257-T-C c.27913A>G p.Ile9305Val Missense 117/312 - 1
2-179558282-T-A c.27862+54A>T - IntronicSNV - 116/311 1
2-179558366-T-C c.27832A>G p.Ile9278Val Missense 116/312 - 4
2-179559561-G-A c.27611C>T p.Thr9204Ile Missense 113/312 - 1
2-179560597-T-C c.27470A>G p.Tyr9157Cys Missense 111/312 - 1
2-179560597-T-G c.27470A>C p.Tyr9157Ser Missense 111/312 - 1
2-179567340-G-A c.26542C>T p.His8848Tyr Missense 104/312 - 2
2-179567634-T-C c.26492-244A>G - IntronicSNV - 103/311 1
2-179569426-T-C c.26041A>G p.Ile8681Val Missense 102/312 - 1
2-179569962-C-T c.25811G>A p.Arg8604Gln Missense 100/312 - 2
2-179569989-G-A c.25784C>T p.Ala8595Val Missense 100/312 - 1
2-179571225-C-G c.25644G>C p.Lys8548Asn Missense 99/312 - 1
2-179571225-C-A c.25644G>T p.Lys8548Asn Missense 99/312 - 1
2-179571272-G-A c.25597C>T p.His8533Tyr Missense 99/312 - 1
2-179571370-C-T c.25499G>A p.Arg8500His Missense 99/312 - 2
2-179574358-A-C c.24956T>G p.Leu8319Trp Missense 96/312 - 1
2-179574438-TTGGTTGTATCTCTAT-T c.24863_24877del p.Ile8288_Pro8292del InFrameDeletion 96/312 - 1
2-179575511-C-T c.24581G>A p.Arg8194Gln Missense 95/312 - 1
2-179575637-G-A c.24455C>T p.Pro8152Leu Missense 95/312 - 1
2-179575832-G-T c.24399C>A p.Asn8133Lys Missense 94/312 - 1
2-179575832-G-A c.24399C>T p.Asn8133Asn Synonymous 94/312 - 1
2-179575836-G-C c.24395C>G p.Thr8132Arg Missense 94/312 - 1
2-179576733-T-C c.24092A>G p.Tyr8031Cys Missense 93/312 - 2
2-179577523-C-G c.23497G>C p.Glu7833Gln Missense 91/312 - 1
2-179577628-C-T c.23392G>A p.Val7798Ile Missense 91/312 - 1
2-179577700-G-A c.23320C>T p.Pro7774Ser Missense 91/312 - 1
2-179577929-C-G c.23200G>C p.Asp7734His Missense 90/312 - 1
2-179577998-T-C c.23131A>G p.Ile7711Val Missense 90/312 - 2
2-179578012-T-C c.23117A>G p.Tyr7706Cys Missense 90/312 - 1
2-179578704-G-A c.22949C>T p.Pro7650Leu Missense 89/312 - 1
2-179578730-G-A c.22923C>T p.Ser7641Ser Synonymous 89/312 - 1
2-179578791-T-C c.22862A>G p.Lys7621Arg Missense 89/312 - 1
2-179578857-G-A c.22796C>T p.Thr7599Met Missense 89/312 - 1
2-179578882-T-A c.22771A>T p.Lys7591* Nonsense 89/312 - 1
2-179578891-T-C c.22762A>G p.Ile7588Val Missense 89/312 - 1
2-179579212-T-C c.22557A>G p.Glu7519Glu Synonymous 88/312 - 1
2-179579769-C-T c.22412G>A p.Cys7471Tyr Missense 87/312 - 1
2-179579822-T-A c.22359A>T p.Leu7453Leu Synonymous 87/312 - 1
2-179579858-G-A c.22323C>T p.Ser7441Ser Synonymous 87/312 - 1
2-179580418-C-A c.21991G>T p.Gly7331Trp Missense 86/312 - 1
2-179580448-C-T c.21961G>A p.Glu7321Lys Missense 86/312 - 1
2-179582327-C-T c.21542G>A p.Ser7181Asn Missense 84/312 - 2
2-179582537-G-T c.21332C>A p.Ala7111Glu Missense 84/312 - 2
2-179582537-G-A c.21332C>T p.Ala7111Val Missense 84/312 - 1
2-179582678-A-G c.21323T>C p.Val7108Ala Missense 83/312 - 1
2-179582913-C-T c.21088G>A p.Glu7030Lys Missense 83/312 - 2
2-179583282-G-C c.20819C>G p.Thr6940Arg Missense 82/312 - 1
2-179585170-G-A c.19587C>T p.His6529His Synonymous 77/312 - 1
2-179585187-C-T c.19570G>A p.Asp6524Asn Missense 77/312 - 1
2-179585257-G-C c.19500C>G p.Asn6500Lys Missense 77/312 - 1
2-179585312-G-A c.19445C>T p.Ser6482Leu Missense 77/312 - 2
2-179585393-A-G c.19367-3T>C - IntronicSNV - 76/311 1
2-179586645-G-C c.19013C>G p.Ser6338Cys Missense 75/312 - 1
2-179586688-T-G c.18970A>C p.Asn6324His Missense 75/312 - 2
2-179587094-C-T c.18688G>A p.Ala6230Thr Missense 74/312 - 1
2-179587130-C-T c.18652G>A p.Asp6218Asn Missense 74/312 - 1
2-179587130-C-G c.18652G>C p.Asp6218His Missense 74/312 - 1
2-179587505-G-C c.18389C>G p.Thr6130Arg Missense 73/312 - 1
2-179587646-G-A c.18248C>T p.Thr6083Met Missense 73/312 - 1
2-179587687-T-C c.18230-23A>G - IntronicSNV - 72/311 3
2-179587773-C-T c.18229G>A p.Glu6077Lys Missense 72/312 - 1
2-179587950-T-A c.18052A>T p.Thr6018Ser Missense 72/312 - 1
2-179587949-G-C c.18053C>G p.Thr6018Ser Missense 72/312 - 1
2-179587955-G-T c.18047C>A p.Ser6016Tyr Missense 72/312 - 1
2-179588159-C-T c.17936G>A p.Arg5979His Missense 71/312 - 1
2-179588622-C-T c.17632G>A p.Ala5878Thr Missense 70/312 - 1
2-179588654-A-G c.17600T>C p.Met5867Thr Missense 70/312 - 1
2-179588813-C-T c.17441G>A p.Gly5814Asp Missense 70/312 - 1
2-179588867-C-A c.17387G>T p.Arg5796Leu Missense 70/312 - 1
2-179589241-G-A c.17129C>T p.Ala5710Val Missense 69/312 - 2
2-179590133-C-G c.17066G>C p.Gly5689Ala Missense 68/312 - 1
2-179590564-C-T c.16753G>A p.Gly5585Ser Missense 67/312 - 1
2-179590565-G-C c.16752C>G p.Ile5584Met Missense 67/312 - 1
2-179590708-C-T c.16609G>A p.Glu5537Lys Missense 67/312 - 1
2-179592504-G-A c.16069C>T p.Pro5357Ser Missense 65/312 - 1
2-179593074-C-A c.15745G>T p.Val5249Phe Missense 64/312 - 1
2-179593243-G-T c.15678C>A p.Ala5226Ala Synonymous 63/312 - 2
2-179593243-G-C c.15678C>G p.Ala5226Ala Synonymous 63/312 - 2
2-179593243-G-A c.15678C>T p.Ala5226Ala Synonymous 63/312 - 2
2-179593296-C-T c.15625G>A p.Gly5209Ser Missense 63/312 - 1
2-179593352-C-T c.15569G>A p.Ser5190Asn Missense 63/312 - 1
2-179593749-T-C c.15284A>G p.Tyr5095Cys Missense 62/312 - 1
2-179594164-C-T c.14987G>A p.Arg4996Gln Missense 61/312 - 1
2-179594275-CT-CA c.14875delinsT p.Arg4959* Missense 61/312 - 1
2-179594430-C-T c.14818G>A p.Ala4940Thr Missense 60/312 - 1
2-179594551-CCC-AAC c.14696_14697delinsTT p.Gly4899Val Missense 60/312 - 1
2-179594552-CC-CA c.14695delinsT p.Gly4899Trp Missense 60/312 - 1
2-179594572-TCG-TGG c.14675delinsC p.Arg4892Pro Missense 60/312 - 1
2-179594573-C-T c.14675G>A p.Arg4892Gln Missense 60/312 - 1
2-179594825-A-T c.14570T>A p.Val4857Glu Missense 59/312 - 1
2-179594832-G-A c.14563C>T p.Leu4855Phe Missense 59/312 - 4
2-179595082-CAC-ATC c.14312_14313delinsAT p.Val4771Asp Missense 59/312 - 1
2-179595274-T-G c.14254A>C p.Lys4752Gln Missense 58/312 - 1
2-179595703-C-A c.13957G>T p.Val4653Phe Missense 57/312 - 1
2-179595849-C-T c.13811G>A p.Gly4604Glu Missense 57/312 - 1
2-179596106-T-C c.13655A>G p.His4552Arg Missense 56/312 - 1
2-179596538-C-G c.13332G>C p.Gln4444His Missense 55/312 - 1
2-179596801-A-G c.13163T>C p.Ile4388Thr Missense 54/312 - 1
2-179597600-C-T c.12571G>A p.Val4191Met Missense 52/312 - 1
2-179597846-G-A c.12325C>T p.Arg4109* Nonsense 52/312 - 1
2-179599054-C-T c.11764+1G>A - IntronicSNV - 49/311 1
2-179599132-G-A c.11687C>T p.Ala3896Val Missense 49/312 - 1
2-179599473-C-T c.11446G>A p.Val3816Ile Missense 48/312 - 1
2-179599647-G-A c.11272C>T p.His3758Tyr Missense 48/312 - 1
2-179599667-G-C c.11252C>G p.Pro3751Arg Missense 48/312 - 1
2-179600475-C-T c.10966G>A p.Ala3656Thr Missense 47/312 - 2
2-179600475-C-A c.10966G>T p.Ala3656Ser Missense 47/312 - 2
2-179600475-C-G c.10966G>C p.Ala3656Pro Missense 47/312 - 1
2-179600687-T-G c.10754A>C p.Gln3585Pro Missense 47/312 - 1
2-179600701-T-C c.10740A>G p.Ile3580Met Missense 47/312 - 1
2-179600715-C-T c.10726G>A p.Gly3576Arg Missense 47/312 - 1
2-179602945-C-G c.10503G>C p.Lys3501Asn Missense 46/312 - 1
2-179603094-AA-A c.10361-5del - IntronicDeletion - 45/311 1
2-179603225-G-A c.10361-138C>T - IntronicSNV - 45/311 1
2-179604366-T-C c.10361-1279A>G - IntronicSNV - 45/311 1
2-179604366-T-G c.10361-1279A>C - IntronicSNV - 45/311 1
2-179605180-C-T c.10361-2093G>A - IntronicSNV - 45/311 2
2-179605180-C-A c.10361-2093G>T - IntronicSNV - 45/311 2
2-179606538-G-A c.10361-3451C>T - IntronicSNV - 45/311 3
2-179609245-A-G c.10361-6158T>C - IntronicSNV - 45/311 1
2-179612873-T-G c.10360+4978A>C - IntronicSNV - 45/311 1
2-179615306-G-A c.10360+2545C>T - IntronicSNV - 45/311 1
2-179615306-G-T c.10360+2545C>A - IntronicSNV - 45/311 1
2-179615887-T-C c.10360+1964A>G - IntronicSNV - 45/311 3
2-179615931-C-G c.10360+1920G>C - IntronicSNV - 45/311 2
2-179617534-A-G c.10360+317T>C - IntronicSNV - 45/311 1
2-179618462-C-T c.10304-555G>A - IntronicSNV - 44/311 1
2-179619958-C-A c.10304-2051G>T - IntronicSNV - 44/311 1
2-179620951-C-T c.10303+2760G>A - IntronicSNV - 44/311 2
2-179621477-C-T c.10303+2234G>A - IntronicSNV - 44/311 2
2-179623758-C-T c.10256G>A p.Ser3419Asn Missense 44/312 - 5
2-179628362-G-A c.10114+542C>T - IntronicSNV - 43/311 1
2-179628369-G-T c.10114+535C>A - IntronicSNV - 43/311 1
2-179628909-C-G c.10109G>C p.Gly3370Ala Missense 43/312 - 1
2-179628969-G-A c.10049C>T p.Pro3350Leu Missense 43/312 - 1
2-179628988-G-A c.10030C>T p.Pro3344Ser Missense 43/312 - 1
2-179629284-C-T c.9958G>A p.Ala3320Thr Missense 42/312 - 1
2-179629287-C-T c.9955G>A p.Val3319Ile Missense 42/312 - 1
2-179629385-T-C c.9857A>G p.Lys3286Arg Missense 42/312 - 1
2-179629461-C-G c.9781G>C p.Val3261Leu Missense 42/312 - 4
2-179629461-C-T c.9781G>A p.Val3261Met Missense 42/312 - 5
2-179629493-A-C c.9749T>G p.Val3250Gly Missense 42/312 - 1
2-179629515-G-A c.9727C>T p.Gln3243* Nonsense 42/312 - 1
2-179631214-T-C c.9597A>G p.Glu3199Glu Synonymous 41/312 - 1
2-179631232-TCG-AGC c.9577_9579delinsGCT p.Arg3193Ala Missense 41/312 - 1
2-179631234-G-A c.9577C>T p.Arg3193* Nonsense 41/312 - 1
2-179632133-A-G c.9471+353T>C - IntronicSNV - 40/311 1
2-179632133-A-T c.9471+353T>A - IntronicSNV - 40/311 1
2-179632598-C-T c.9359G>A p.Arg3120Gln Missense 40/312 - 1
2-179632619-C-T c.9338G>A p.Arg3113His Missense 40/312 - 1
2-179632710-T-C c.9305+31A>G - IntronicSNV - 39/311 1
2-179632835-C-G c.9211G>C p.Glu3071Gln Missense 39/312 - 1
2-179633490-G-C c.9073C>G p.Leu3025Val Missense 38/312 - 1
2-179633643-T-C c.8920A>G p.Met2974Val Missense 38/312 - 1
2-179634421-T-G c.8887A>C p.Thr2963Pro Missense 37/312 - 2
2-179634424-C-T c.8884G>A p.Ala2962Thr Missense 37/312 - 1
2-179634555-C-G c.8753G>C p.Gly2918Ala Missense 37/312 - 1
2-179634559-T-G c.8749A>C p.Asn2917His Missense 37/312 - 1
2-179634621-G-A c.8687C>T p.Thr2896Ile Missense 37/312 - 4
2-179634802-T-C c.8626A>G p.Lys2876Glu Missense 36/312 - 1
2-179634837-T-C c.8591A>G p.Tyr2864Cys Missense 36/312 - 1
2-179634896-TGA-GAC c.8530_8532delinsGTC p.Ser2844Val Missense 36/312 - 1
2-179634903-A-G c.8525T>C p.Leu2842Pro Missense 36/312 - 1
2-179634919-T-A c.8509A>T p.Ser2837Cys Missense 36/312 - 1
2-179634942-T-C c.8486A>G p.His2829Arg Missense 36/312 - 1
2-179634988-AA-A c.8442del p.Phe2814Leufs*12 Frameshift 36/312 - 1
2-179635005-T-TT c.8426dup p.Asn2809Lysfs*7 Frameshift 36/312 - 1
2-179635351-T-G c.8168A>C p.Asp2723Ala Missense 35/312 - 1
2-179635998-T-C c.8056A>G p.Ile2686Val Missense 34/312 - 1
2-179636093-C-T c.7961G>A p.Arg2654Lys Missense 34/312 - 1
2-179637878-A-T c.7813T>A p.Tyr2605Asn Missense 33/312 - 1
2-179638594-A-T c.7301T>A p.Leu2434His Missense 31/312 - 1
2-179638606-G-A c.7289C>T p.Pro2430Leu Missense 31/312 - 1
2-179638721-C-T c.7174G>A p.Gly2392Ser Missense 31/312 - 1
2-179638730-T-G c.7165A>C p.Met2389Leu Missense 31/312 - 1
2-179638730-T-A c.7165A>T p.Met2389Leu Missense 31/312 - 1
2-179638736-C-T c.7159G>A p.Val2387Ile Missense 31/312 - 1
2-179638831-G-A c.7064C>T p.Pro2355Leu Missense 31/312 - 1
2-179638832-GGG-G c.7064_7065del p.Pro2355Hisfs*8 Frameshift 31/312 - 1
2-179638834-C-T c.7061G>A p.Arg2354His Missense 31/312 - 1
2-179639041-C-T c.6950G>A p.Arg2317His Missense 30/312 - 1
2-179639140-C-T c.6851G>A p.Gly2284Glu Missense 30/312 - 1
2-179639141-C-T c.6850G>A p.Gly2284Arg Missense 30/312 - 1
2-179639166-TG-T c.6825del p.Asp2275Glufs*2 Frameshift 30/312 - 1
2-179639297-C-T c.6791-97G>A - IntronicSNV - 29/311 1
2-179639297-C-A c.6791-97G>T - IntronicSNV - 29/311 1
2-179639665-G-A c.6773C>T p.Ala2258Val Missense 29/312 - 1
2-179640083-C-A c.6508G>T p.Ala2170Ser Missense 28/312 - 1
2-179640101-C-T c.6490G>A p.Ala2164Thr Missense 28/312 - 2
2-179640211-GTA-G c.6379_6380del p.Tyr2127Leufs*8 Frameshift 28/312 - 1
2-179640343-C-A c.6248G>T p.Arg2083Ile Missense 28/312 - 1
2-179640428-C-T c.6163G>A p.Glu2055Lys Missense 28/312 - 2
2-179640461-C-CA c.6129_6130insT p.Glu2044* Nonsense 28/312 - 1
2-179640476-G-A c.6115C>T p.Leu2039Phe Missense 28/312 - 1
2-179640545-C-T c.6046G>A p.Val2016Met Missense 28/312 - 1
2-179640598-C-T c.5993G>A p.Arg1998His Missense 28/312 - 1
2-179640719-G-A c.5872C>T p.Gln1958* Nonsense 28/312 - 1
2-179640850-G-A c.5741C>T p.Ala1914Val Missense 28/312 - 1
2-179640851-C-T c.5740G>A p.Ala1914Thr Missense 28/312 - 1
2-179641014-C-A c.5577G>T p.Arg1859Ser Missense 28/312 - 1
2-179641033-A-T c.5558T>A p.Leu1853His Missense 28/312 - 1
2-179641172-G-A c.5419C>T p.Pro1807Ser Missense 28/312 - 1
2-179641172-G-T c.5419C>A p.Pro1807Thr Missense 28/312 - 1
2-179641208-T-A c.5383A>T p.Lys1795* Nonsense 28/312 - 1
2-179641393-G-A c.5198C>T p.Thr1733Met Missense 28/312 - 1
2-179641408-GG-TG c.5183delinsA p.Pro1728His Missense 28/312 - 1
2-179641726-C-T c.4865G>A p.Ser1622Asn Missense 28/312 - 1
2-179641928-C-G c.4762G>C p.Val1588Leu Missense 27/312 - 1
2-179641928-C-A c.4762G>T p.Val1588Leu Missense 27/312 - 1
2-179641975-C-T c.4715G>A p.Arg1572Gln Missense 27/312 - 1
2-179641975-C-A c.4715G>T p.Arg1572Leu Missense 27/312 - 1
2-179642700-GA-CT c.4210_4211delinsAG p.Ser1404Ser Missense 25/312 - 1
2-179643601-C-G c.4208G>C p.Arg1403Thr Missense 24/312 - 1
2-179643632-T-C c.4177A>G p.Ile1393Val Missense 24/312 - 1
2-179643632-T-G c.4177A>C p.Ile1393Leu Missense 24/312 - 1
2-179643709-CT-GC c.4099_4100delinsGC p.Ser1367Ala Missense 24/312 - 1
2-179643767-T-A c.4042A>T p.Ser1348Cys Missense 24/312 - 1
2-179644035-G-A c.3884C>T p.Ser1295Leu Missense 23/312 - 3
2-179644170-AA-GC c.3748_3749delinsGC p.Phe1250Ala Missense 23/312 - 1
2-179644170-AA-CG c.3748_3749delinsCG p.Phe1250Arg Missense 23/312 - 1
2-179644173-GA-CT c.3745_3746delinsAG p.Ser1249Ser Missense 23/312 - 1
2-179644182-T-A c.3737A>T p.His1246Leu Missense 23/312 - 1
2-179644776-TT-GC c.3679_3680delinsGC p.Lys1227Ala Missense 22/312 - 1
2-179644821-GA-CT c.3634_3635delinsAG p.Ser1212Ser Missense 22/312 - 1
2-179644827-AC-AA c.3628delinsT p.Val1210Leu Missense 22/312 - 1
2-179644845-T-C c.3611A>G p.Glu1204Gly Missense 22/312 - 1
2-179644855-T-A c.3601A>T p.Lys1201* Nonsense 22/312 - 10
2-179644855-T-C c.3601A>G p.Lys1201Glu Missense 22/312 - 12
2-179644906-G-A c.3550C>T p.Gln1184* Nonsense 22/312 - 1
2-179644924-C-T c.3532G>A p.Glu1178Lys Missense 22/312 - 1
2-179645881-C-A c.3490G>T p.Glu1164* Nonsense 21/312 - 1
2-179645962-C-T c.3409G>A p.Gly1137Ser Missense 21/312 - 1
2-179645962-C-G c.3409G>C p.Gly1137Arg Missense 21/312 - 2
2-179647041-A-G c.3278T>C p.Leu1093Pro Missense 20/312 - 1
2-179647043-TTT-GAC c.3274_3276delinsGTC p.Lys1092Val Missense 20/312 - 1
2-179647044-T-C c.3275A>G p.Lys1092Arg Missense 20/312 - 1
2-179647044-TT-GC c.3274_3275delinsGC p.Lys1092Ala Missense 20/312 - 1
2-179647068-A-G c.3251T>C p.Phe1084Ser Missense 20/312 - 1
2-179647069-A-T c.3250T>A p.Phe1084Ile Missense 20/312 - 1
2-179647117-T-C c.3202A>G p.Ser1068Gly Missense 20/312 - 1
2-179647140-CT-GC c.3178_3179delinsGC p.Arg1060Ala Missense 20/312 - 1
2-179647293-GT-TG c.3136_3137delinsCA p.Thr1046His Missense 19/312 - 1
2-179647314-T-C c.3116A>G p.Glu1039Gly Missense 19/312 - 1
2-179647323-T-G c.3107A>C p.Glu1036Ala Missense 19/312 - 1
2-179647533-C-T c.3100G>A p.Val1034Met Missense 18/312 - 3
2-179647546-A-G c.3087T>C p.Tyr1029Tyr Synonymous 18/312 - 1
2-179647571-G-A c.3062C>T p.Ala1021Val Missense 18/312 - 1
2-179647572-C-T c.3061G>A p.Ala1021Thr Missense 18/312 - 1
2-179647622-T-G c.3011A>C p.Glu1004Ala Missense 18/312 - 2
2-179647622-T-C c.3011A>G p.Glu1004Gly Missense 18/312 - 1
2-179647623-C-A c.3010G>T p.Glu1004* Nonsense 18/312 - 1
2-179647631-A-G c.3002T>C p.Met1001Thr Missense 18/312 - 1
2-179647631-A-C c.3002T>G p.Met1001Arg Missense 18/312 - 1
2-179647641-C-T c.2992G>A p.Ala998Thr Missense 18/312 - 1
2-179647655-AA-GC c.2977_2978delinsGC p.Phe993Ala Missense 18/312 - 1
2-179647706-C-A c.2927G>T p.Trp976Leu Missense 18/312 - 1
2-179647707-A-ACG c.2925_2926insCG p.Trp976Argfs*17 Frameshift 18/312 - 1
2-179647707-A-G c.2926T>C p.Trp976Arg Missense 18/312 - 7
2-179647707-A-T c.2926T>A p.Trp976Arg Missense 18/312 - 7
2-179647712-AC-AG c.2920delinsC p.Val974Leu Missense 18/312 - 1
2-179647739-T-G c.2894A>C p.His965Pro Missense 18/312 - 1
2-179647750-G-A c.2883C>T p.Thr961Thr Synonymous 18/312 - 1
2-179647751-GT-GG c.2881delinsC p.Thr961Pro Missense 18/312 - 1
2-179647752-T-C c.2881A>G p.Thr961Ala Missense 18/312 - 1
2-179647763-C-G c.2870G>C p.Gly957Ala Missense 18/312 - 1
2-179647764-C-G c.2869G>C p.Gly957Arg Missense 18/312 - 1
2-179647769-AT-GG c.2863_2864delinsCC p.Ile955Pro Missense 18/312 - 1
2-179648472-G-C c.2816C>G p.Pro939Arg Missense 17/312 - 1
2-179648490-G-C c.2798C>G p.Pro933Arg Missense 17/312 - 1
2-179648516-G-T c.2776-4C>A - IntronicSNV - 16/311 1
2-179648807-C-T c.2765G>A p.Arg922His Missense 16/312 - 1
2-179648835-C-T c.2737G>A p.Glu913Lys Missense 16/312 - 1
2-179648850-C-T c.2722G>A p.Gly908Ser Missense 16/312 - 1
2-179648860-C-T c.2712G>A p.Val904Val Synonymous 16/312 - 1
2-179648889-C-T c.2683G>A p.Gly895Ser Missense 16/312 - 1
2-179648900-T-G c.2672A>C p.Lys891Thr Missense 16/312 - 1
2-179648976-G-C c.2596C>G p.Pro866Ala Missense 16/312 - 1
2-179649005-GT-TG c.2566_2567delinsCA p.Thr856His Missense 16/312 - 1
2-179649065-C-A c.2507G>T p.Gly836Val Missense 16/312 - 1
2-179649068-G-T c.2504C>A p.Ala835Asp Missense 16/312 - 1
2-179650370-G-A c.2470C>T p.Pro824Ser Missense 15/312 - 1
2-179650370-G-T c.2470C>A p.Pro824Thr Missense 15/312 - 1
2-179650408-G-A c.2432C>T p.Thr811Ile Missense 15/312 - 1
2-179650426-AC-TG c.2413_2414delinsCA p.Val805Gln Missense 15/312 - 1
2-179650429-TG-GC c.2410_2411delinsGC p.His804Ala Missense 15/312 - 1
2-179650573-A-G c.2370+2T>C - IntronicSNV - 14/311 1
2-179650580-A-G c.2365T>C p.Ser789Pro Missense 14/312 - 1
2-179650582-G-A c.2363C>T p.Ser788Leu Missense 14/312 - 1
2-179650583-A-C c.2362T>G p.Ser788Ala Missense 14/312 - 1
2-179650596-CTT-TGT c.2348_2349delinsCA p.Lys783Thr Missense 14/312 - 1
2-179650644-TCT-TGG c.2299_2300delinsCC p.Arg767Pro Missense 14/312 - 1
2-179650673-G-A c.2272C>T p.His758Tyr Missense 14/312 - 1
2-179650675-GG-TG c.2270delinsA p.Pro757His Missense 14/312 - 1
2-179650701-C-T c.2244G>A p.Glu748Glu Synonymous 14/312 - 1
2-179650717-G-A c.2228C>T p.Ala743Val Missense 14/312 - 3
2-179650726-C-A c.2219G>T p.Arg740Leu Missense 14/312 - 7
2-179650730-C-G c.2215G>C p.Glu739Gln Missense 14/312 - 1
2-179650768-G-A c.2177C>T p.Ser726Phe Missense 14/312 - 1
2-179650777-A-G c.2168T>C p.Leu723Pro Missense 14/312 - 2
2-179650807-C-T c.2138G>A p.Arg713Gln Missense 14/312 - 2
2-179650839-TAC-TTT c.2104_2105delinsAA p.Val702Lys Missense 14/312 - 1
2-179650843-GC-TG c.2101_2102delinsCA p.Ala701His Missense 14/312 - 1
2-179650854-TTT-TGT c.2090delinsC p.Lys697Thr Missense 14/312 - 1
2-179651250-T-C c.2077-382A>G - IntronicSNV - 13/311 1
2-179651746-C-T c.2077-878G>A - IntronicSNV - 13/311 1
2-179654106-AT-TG c.2056_2057delinsCA p.Ile686His Missense 13/312 - 1
2-179654106-AT-GC c.2056_2057delinsGC p.Ile686Ala Missense 13/312 - 1
2-179654115-T-C c.2048A>G p.Gln683Arg Missense 13/312 - 1
2-179654118-C-T c.2045G>A p.Arg682Lys Missense 13/312 - 1
2-179654128-T-G c.2035A>C p.Met679Leu Missense 13/312 - 1
2-179654128-T-A c.2035A>T p.Met679Leu Missense 13/312 - 1
2-179654166-G-C c.1997C>G p.Ala666Gly Missense 13/312 - 1
2-179654167-C-A c.1996G>T p.Ala666Ser Missense 13/312 - 1
2-179654169-T-C c.1994A>G p.Lys665Arg Missense 13/312 - 1
2-179654193-G-C c.1970C>G p.Ser657Cys Missense 13/312 - 1
2-179654193-GA-AA c.1970delinsT p.Ser657Phe Missense 13/312 - 1
2-179654199-GC-TG c.1963_1964delinsCA p.Ala655His Missense 13/312 - 1
2-179654205-T-C c.1958A>G p.Lys653Arg Missense 13/312 - 1
2-179654220-CT-GC c.1942_1943delinsGC p.Arg648Ala Missense 13/312 - 1
2-179654745-AT-GC c.1897_1898delinsGC p.Ile633Ala Missense 12/312 - 1
2-179654752-C-G c.1891G>C p.Glu631Gln Missense 12/312 - 4
2-179654758-C-A c.1885G>T p.Gly629Cys Missense 12/312 - 1
2-179654759-TCT-TGT c.1883delinsC p.Arg628Thr Missense 12/312 - 1
2-179654760-CT-GA c.1882_1883delinsTC p.Arg628Ser Missense 12/312 - 1
2-179654781-TT-GC c.1861_1862delinsGC p.Lys621Ala Missense 12/312 - 1
2-179654787-TT-GC c.1855_1856delinsGC p.Lys619Ala Missense 12/312 - 1
2-179654792-TG-AC c.1850_1851delinsGT p.Thr617Ser Missense 12/312 - 1
2-179654793-G-A c.1850C>T p.Thr617Ile Missense 12/312 - 1
2-179654794-T-A c.1849A>T p.Thr617Ser Missense 12/312 - 1
2-179654800-C-CC c.1843dup p.Val615Glyfs*16 Frameshift 12/312 - 1
2-179654800-C-G c.1843G>C p.Val615Leu Missense 12/312 - 1
2-179654822-T-G c.1821A>C p.Lys607Asn Missense 12/312 - 1
2-179654822-T-A c.1821A>T p.Lys607Asn Missense 12/312 - 1
2-179654831-TTC-TGT c.1810_1811delinsAC p.Glu604Thr Missense 12/312 - 1
2-179654832-T-G c.1811A>C p.Glu604Ala Missense 12/312 - 1
2-179654838-AT-GC c.1804_1805delinsGC p.Met602Ala Missense 12/312 - 1
2-179655446-T-A c.1789A>T p.Ser597Cys Missense 11/312 - 1
2-179655448-A-C c.1787T>G p.Leu596Arg Missense 11/312 - 1
2-179655464-G-A c.1771C>T p.Gln591* Nonsense 11/312 - 1
2-179655466-T-G c.1769A>C p.Gln590Pro Missense 11/312 - 1
2-179655466-T-C c.1769A>G p.Gln590Arg Missense 11/312 - 1
2-179655466-TG-GC c.1768_1769delinsGC p.Gln590Ala Missense 11/312 - 1
2-179655476-T-C c.1759A>G p.Thr587Ala Missense 11/312 - 1
2-179655504-TAG-TTT c.1729_1730delinsAA p.Leu577Lys Missense 11/312 - 1
2-179655514-GA-CG c.1720_1721delinsCG p.Ser574Arg Missense 11/312 - 1
2-179655520-G-A c.1715C>T p.Ala572Val Missense 11/312 - 1
2-179655523-G-A c.1712C>T p.Thr571Ile Missense 11/312 - 1
2-179655532-A-G c.1703T>C p.Val568Ala Missense 11/312 - 1
2-179655544-G-GG c.1691dup p.Ser565Ilefs*35 Frameshift 11/312 - 1
2-179656805-TTG-TAT c.1654_1655delinsAT p.Gln552Ile Missense 10/312 - 1
2-179656818-TT-GT c.1643delinsC p.Lys548Thr Missense 10/312 - 1
2-179656827-TT-GC c.1633_1634delinsGC p.Lys545Ala Missense 10/312 - 1
2-179656845-A-G c.1616T>C p.Ile539Thr Missense 10/312 - 1
2-179656850-AGT-TAA c.1609_1611delinsTTA p.Thr537Leu Nonsense 10/312 - 1
2-179656860-T-A c.1601A>T p.Glu534Val Missense 10/312 - 1
2-179656869-TT-GC c.1591_1592delinsGC p.Lys531Ala Missense 10/312 - 1
2-179656872-GC-TG c.1588_1589delinsCA p.Ala530His Missense 10/312 - 1
2-179656876-C-T c.1585G>A p.Ala529Thr Missense 10/312 - 1
2-179656878-G-C c.1583C>G p.Ser528Cys Missense 10/312 - 1
2-179656879-A-C c.1582T>G p.Ser528Ala Missense 10/312 - 1
2-179658138-TG-GC c.1528_1529delinsGC p.His510Ala Missense 9/312 - 1
2-179658156-T-G c.1511A>C p.Glu504Ala Missense 9/312 - 1
2-179658162-TT-GC c.1504_1505delinsGC p.Lys502Ala Missense 9/312 - 1
2-179658166-T-C c.1501A>G p.Thr501Ala Missense 9/312 - 1
2-179658171-AT-GC c.1495_1496delinsGC p.Ile499Ala Missense 9/312 - 2
2-179658183-GT-TG c.1483_1484delinsCA p.Thr495His Missense 9/312 - 1
2-179658184-T-C c.1483A>G p.Thr495Ala Missense 9/312 - 1
2-179658186-C-T c.1481G>A p.Arg494Lys Missense 9/312 - 1
2-179658189-G-T c.1478C>A p.Ser493* Nonsense 9/312 - 1
2-179658207-TT-GC c.1459_1460delinsGC p.Lys487Ala Missense 9/312 - 2
2-179658247-T-G c.1420A>C p.Thr474Pro Missense 9/312 - 1
2-179659151-A-C c.1373T>G p.Val458Gly Missense 8/312 - 1
2-179659155-C-G c.1369G>C p.Ala457Pro Missense 8/312 - 2
2-179659157-GT-TT c.1367delinsA p.Thr456Asn Missense 8/312 - 2
2-179659159-CGT-TGT c.1365delinsA p.Thr455Thr Missense 8/312 - 1
2-179659185-C-A c.1339G>T p.Glu447* Nonsense 8/312 - 1
2-179659199-A-G c.1325T>C p.Val442Ala Missense 8/312 - 1
2-179659214-CT-CA c.1309delinsT p.Arg437* Missense 8/312 - 1
2-179659229-G-C c.1295C>G p.Ala432Gly Missense 8/312 - 1
2-179659247-AC-TG c.1276_1277delinsCA p.Val426His Missense 8/312 - 2
2-179659257-T-A c.1267A>T p.Ser423Cys Missense 8/312 - 2
2-179659262-T-G c.1262A>C p.Asp421Ala Missense 8/312 - 4
2-179659269-C-T c.1255G>A p.Asp419Asn Missense 8/312 - 1
2-179659273-TTT-TGT c.1250delinsC p.Lys417Thr Missense 8/312 - 1
2-179659646-T-C c.1245+3A>G - IntronicSNV - 7/311 1
2-179659671-G-A c.1223C>T p.Ala408Val Missense 7/312 - 1
2-179659673-C-A c.1221G>T p.Glu407Asp Missense 7/312 - 1
2-179659673-C-G c.1221G>C p.Glu407Asp Missense 7/312 - 1
2-179659677-G-A c.1217C>T p.Ala406Val Missense 7/312 - 1
2-179659683-T-G c.1211A>C p.Tyr404Ser Missense 7/312 - 1
2-179659685-GCT-GAG c.1207_1208delinsCT p.Ser403Leu Missense 7/312 - 1
2-179659686-CT-GC c.1207_1208delinsGC p.Ser403Ala Missense 7/312 - 1
2-179659686-CT-GA c.1207_1208delinsTC p.Ser403Ser Missense 7/312 - 1
2-179659687-T-C c.1207A>G p.Ser403Gly Missense 7/312 - 1
2-179659689-G-A c.1205C>T p.Ala402Val Missense 7/312 - 1
2-179659699-A-C c.1195T>G p.Ser399Ala Missense 7/312 - 1
2-179659710-G-T c.1184C>A p.Ala395Asp Missense 7/312 - 2
2-179659724-AC-AG c.1169delinsC p.Gly390Ala Missense 7/312 - 1
2-179659728-C-T c.1166G>A p.Ser389Asn Missense 7/312 - 1
2-179659732-T-A c.1162A>T p.Ile388Phe Missense 7/312 - 1
2-179659755-TA-GC c.1138_1139delinsGC p.Tyr380Ala Missense 7/312 - 1
2-179659760-CCC-TGT c.1132_1134delinsACA p.Gly378Thr Missense 7/312 - 1
2-179659761-C-T c.1133G>A p.Gly378Glu Missense 7/312 - 1
2-179659770-CT-GC c.1123_1124delinsGC p.Arg375Ala Missense 7/312 - 1
2-179659771-T-C c.1123A>G p.Arg375Gly Missense 7/312 - 1
2-179659773-T-G c.1121A>C p.Glu374Ala Missense 7/312 - 1
2-179659774-C-G c.1120G>C p.Glu374Gln Missense 7/312 - 1
2-179659775-T-A c.1119A>T p.Glu373Asp Missense 7/312 - 1
2-179659776-T-G c.1118A>C p.Glu373Ala Missense 7/312 - 1
2-179659776-TC-CT c.1117_1118delinsAG p.Glu373Arg Missense 7/312 - 1
2-179659777-C-G c.1117G>C p.Glu373Gln Missense 7/312 - 1
2-179659790-AG-GG c.1104delinsC p.Thr368Thr Missense 7/312 - 1
2-179659794-G-C c.1100C>G p.Ser367Cys Missense 7/312 - 1
2-179659801-T-C c.1093A>G p.Thr365Ala Missense 7/312 - 1
2-179659805-CG-TC c.1088_1089delinsGA p.Thr363Arg Missense 7/312 - 1
2-179659806-G-A c.1088C>T p.Thr363Met Missense 7/312 - 1
2-179659812-T-C c.1082A>G p.Glu361Gly Missense 7/312 - 4
2-179659814-TCT-TGT c.1079delinsC p.Arg360Thr Missense 7/312 - 1
2-179659820-CTC-TGT c.1072_1074delinsACA p.Glu358Thr Missense 7/312 - 1
2-179659831-A-C c.1063T>G p.Ser355Ala Missense 7/312 - 1
2-179659849-C-A c.1045G>T p.Gly349Cys Missense 7/312 - 5
2-179659864-G-A c.1030C>T p.Pro344Ser Missense 7/312 - 1
2-179659881-C-G c.1013G>C p.Gly338Ala Missense 7/312 - 1
2-179659882-C-A c.1012G>T p.Gly338Cys Missense 7/312 - 1
2-179659882-C-G c.1012G>C p.Gly338Arg Missense 7/312 - 2
2-179659882-C-T c.1012G>A p.Gly338Ser Missense 7/312 - 1
2-179659894-T-C c.1000A>G p.Thr334Ala Missense 7/312 - 1
2-179659905-GT-TG c.988_989delinsCA p.Thr330His Missense 7/312 - 1
2-179659909-T-C c.985A>G p.Lys329Glu Missense 7/312 - 1
2-179659912-G-A c.982C>T p.Arg328Cys Missense 7/312 - 1
2-179659912-G-C c.982C>G p.Arg328Gly Missense 7/312 - 1
2-179659920-AA-AG c.973delinsC p.Leu325Leu Missense 7/312 - 5
2-179659926-G-C c.968C>G p.Ser323Cys Missense 7/312 - 1
2-179659933-C-T c.961G>A p.Val321Ile Missense 7/312 - 2
2-179659946-GGA-GAG c.946_947delinsCT p.Ser316Leu Missense 7/312 - 1
2-179659950-G-A c.944C>T p.Thr315Ile Missense 7/312 - 2
2-179659958-TCT-TGG c.934_935delinsCC p.Arg312Pro Missense 7/312 - 1
2-179659964-TGC-TGT c.928delinsA p.Ala310Thr Missense 7/312 - 2
2-179659966-C-T c.928G>A p.Ala310Thr Missense 7/312 - 1
2-179659971-G-C c.923C>G p.Ser308Cys Missense 7/312 - 1
2-179664223-G-C c.905C>G p.Ser302Cys Missense 6/312 - 2
2-179664227-G-T c.901C>A p.Pro301Thr Missense 6/312 - 1
2-179664229-G-A c.899C>T p.Thr300Ile Missense 6/312 - 1
2-179664242-C-T c.886G>A p.Val296Met Missense 6/312 - 1
2-179664244-TG-GC c.883_884delinsGC p.His295Ala Missense 6/312 - 1
2-179664244-T-C c.884A>G p.His295Arg Missense 6/312 - 4
2-179664246-TCT-CAT c.881_882delinsTG p.Arg294Met Missense 6/312 - 1
2-179664250-AC-TG c.877_878delinsCA p.Val293His Missense 6/312 - 1
2-179664259-GG-TG c.869delinsA p.Pro290His Missense 6/312 - 1
2-179664270-TAT-TTT c.857delinsA p.Ile286Lys Missense 6/312 - 1
2-179664277-G-A c.851C>T p.Ser284Leu Missense 6/312 - 1
2-179664278-A-G c.850T>C p.Ser284Pro Missense 6/312 - 1
2-179664284-A-C c.844T>G p.Ser282Ala Missense 6/312 - 1
2-179664291-CCG-TGT c.835_837delinsACA p.Arg279Thr Missense 6/312 - 2
2-179664293-G-A c.835C>T p.Arg279Trp Missense 6/312 - 9
2-179664297-CAG-TGT c.829_831delinsACA p.Leu277Thr Missense 6/312 - 1
2-179664298-AG-GC c.829_830delinsGC p.Leu277Ala Missense 6/312 - 2
2-179664301-TG-GC c.826_827delinsGC p.Gln276Ala Missense 6/312 - 1
2-179664306-TTT-TGT c.821delinsC p.Lys274Thr Missense 6/312 - 1
2-179664306-TTT-GAC c.820_822delinsGTC p.Lys274Val Missense 6/312 - 1
2-179664308-T-C c.820A>G p.Lys274Glu Missense 6/312 - 1
2-179664315-AAT-TGG c.811_813delinsCCA p.Ile271Pro Missense 6/312 - 1
2-179664319-GA-CA c.809delinsG p.Ser270Cys Missense 6/312 - 1
2-179664319-G-C c.809C>G p.Ser270Cys Missense 6/312 - 1
2-179664320-A-T c.808T>A p.Ser270Thr Missense 6/312 - 1
2-179664320-A-G c.808T>C p.Ser270Pro Missense 6/312 - 1
2-179664322-G-A c.806C>T p.Pro269Leu Missense 6/312 - 1
2-179664323-G-A c.805C>T p.Pro269Ser Missense 6/312 - 1
2-179664327-TGT-TTT c.800delinsA p.Thr267Lys Missense 6/312 - 1
2-179664328-G-A c.800C>T p.Thr267Ile Missense 6/312 - 1
2-179664335-A-G c.793T>C p.Ser265Pro Missense 6/312 - 1
2-179664336-TCT-TGT c.791delinsC p.Arg264Thr Missense 6/312 - 1
2-179664337-C-T c.791G>A p.Arg264Lys Missense 6/312 - 1
2-179664339-TG-GT c.788_789delinsAC p.Ser263Tyr Missense 6/312 - 1
2-179664341-A-C c.787T>G p.Ser263Ala Missense 6/312 - 1
2-179664342-CTT-TGT c.785_786delinsCA p.Lys262Thr Missense 6/312 - 2
2-179664346-G-A c.782C>T p.Pro261Leu Missense 6/312 - 1
2-179664350-T-G c.778A>C p.Lys260Gln Missense 6/312 - 1
2-179664352-G-C c.776C>G p.Pro259Arg Missense 6/312 - 1
2-179664358-AT-GC c.769_770delinsGC p.Ile257Ala Missense 6/312 - 1
2-179664361-CT-GC c.766_767delinsGC p.Arg256Ala Missense 6/312 - 1
2-179664361-C-T c.767G>A p.Arg256Lys Missense 6/312 - 1
2-179664370-G-A c.758C>T p.Thr253Ile Missense 6/312 - 1
2-179664373-TT-GC c.754_755delinsGC p.Lys252Ala Missense 6/312 - 1
2-179664376-TG-GC c.751_752delinsGC p.His251Ala Missense 6/312 - 1
2-179664378-TGG-TGT c.748delinsA p.Pro250Thr Missense 6/312 - 2
2-179664380-G-T c.748C>A p.Pro250Thr Missense 6/312 - 3
2-179664382-AG-AC c.745delinsG p.Leu249Val Missense 6/312 - 1
2-179664394-G-A c.734C>T p.Ala245Val Missense 6/312 - 1
2-179664395-C-T c.733G>A p.Ala245Thr Missense 6/312 - 1
2-179664396-GGC-AAG c.730_732delinsCTT p.Ala244Leu Missense 6/312 - 1
2-179664397-GC-TG c.730_731delinsCA p.Ala244His Missense 6/312 - 1
2-179664398-C-T c.730G>A p.Ala244Thr Missense 6/312 - 1
2-179664401-C-G c.727G>C p.Gly243Arg Missense 6/312 - 2
2-179664405-TAT-TGG c.721_722delinsCC p.Ile241Pro Missense 6/312 - 1
2-179664405-TAT-TGT c.722delinsC p.Ile241Thr Missense 6/312 - 1
2-179664405-TAT-TTT c.722delinsA p.Ile241Lys Missense 6/312 - 1
2-179664406-A-G c.722T>C p.Ile241Thr Missense 6/312 - 1
2-179664407-T-G c.721A>C p.Ile241Leu Missense 6/312 - 1
2-179664407-T-A c.721A>T p.Ile241Leu Missense 6/312 - 1
2-179664407-T-C c.721A>G p.Ile241Val Missense 6/312 - 1
2-179664416-C-A c.712G>T p.Glu238* Nonsense 6/312 - 1
2-179664418-AC-TG c.709_710delinsCA p.Val237His Missense 6/312 - 1
2-179664419-C-T c.709G>A p.Val237Ile Missense 6/312 - 1
2-179664422-T-C c.706A>G p.Thr236Ala Missense 6/312 - 1
2-179664425-C-T c.703G>A p.Ala235Thr Missense 6/312 - 1
2-179664426-AAT-TGG c.700_702delinsCCA p.Ile234Pro Missense 6/312 - 1
2-179664427-A-C c.701T>G p.Ile234Ser Missense 6/312 - 1
2-179664436-GC-TG c.691_692delinsCA p.Ala231His Missense 6/312 - 1
2-179664448-GC-TG c.679_680delinsCA p.Ala227His Missense 6/312 - 1
2-179664452-C-G c.676G>C p.Glu226Gln Missense 6/312 - 1
2-179664453-AAT-TGG c.673_675delinsCCA p.Ile225Pro Missense 6/312 - 1
2-179664454-AT-TG c.673_674delinsCA p.Ile225His Missense 6/312 - 2
2-179664457-T-C c.671A>G p.Lys224Arg Missense 6/312 - 1
2-179664556-T-G c.665A>C p.Glu222Ala Missense 5/312 - 2
2-179664557-C-G c.664G>C p.Glu222Gln Missense 5/312 - 1
2-179664557-C-T c.664G>A p.Glu222Lys Missense 5/312 - 1
2-179664561-TCG-TGT c.658_659delinsAC p.Arg220Thr Missense 5/312 - 1
2-179664562-C-T c.659G>A p.Arg220Gln Missense 5/312 - 1
2-179664570-TCT-TGT c.650delinsC p.Arg217Thr Missense 5/312 - 1
2-179664571-CT-GA c.649_650delinsTC p.Arg217Ser Missense 5/312 - 1
2-179664579-TG-GT c.641_642delinsAC p.Ser214Tyr Missense 5/312 - 1
2-179664580-G-A c.641C>T p.Ser214Leu Missense 5/312 - 1
2-179664582-GA-AG c.638_639delinsCT p.Ile213Thr Missense 5/312 - 1
2-179664583-A-G c.638T>C p.Ile213Thr Missense 5/312 - 1
2-179664584-T-G c.637A>C p.Ile213Leu Missense 5/312 - 1
2-179664584-T-A c.637A>T p.Ile213Phe Missense 5/312 - 1
2-179664591-CAG-C c.629_630del p.Thr210Serfs*12 Frameshift 5/312 - 1
2-179664596-A-C c.625T>G p.Ser209Ala Missense 5/312 - 2
2-179664604-G-A c.617C>T p.Thr206Ile Missense 5/312 - 2
2-179664612-CTT-TGT c.608_609delinsCA p.Lys203Thr Missense 5/312 - 1
2-179664619-GC-CG c.601_602delinsCG p.Ala201Arg Missense 5/312 - 2
2-179664628-T-G c.593A>C p.Glu198Ala Missense 5/312 - 1
2-179664628-TC-CT c.592_593delinsAG p.Glu198Arg Missense 5/312 - 1
2-179664633-CTTC-C c.593_595del p.Glu198del InFrameDeletion 5/312 - 2
2-179664634-T-G c.587A>C p.Glu196Ala Missense 5/312 - 1
2-179664637-C-T c.584G>A p.Gly195Asp Missense 5/312 - 1
2-179665117-C-T c.583+5G>A - IntronicSNV - 4/311 1
2-179665132-TA-GT c.572_573delinsAC p.Leu191Tyr Missense 4/312 - 1
2-179665139-G-A c.566C>T p.Ala189Val Missense 4/312 - 1
2-179665140-C-T c.565G>A p.Ala189Thr Missense 4/312 - 1
2-179665143-T-C c.562A>G p.Thr188Ala Missense 4/312 - 2
2-179665146-A-G c.559T>C p.Ser187Pro Missense 4/312 - 1
2-179665148-G-A c.557C>T p.Thr186Ile Missense 4/312 - 1
2-179665151-GC-TG c.553_554delinsCA p.Ala185His Missense 4/312 - 1
2-179665152-C-A c.553G>T p.Ala185Ser Missense 4/312 - 1
2-179665152-C-G c.553G>C p.Ala185Pro Missense 4/312 - 1
2-179665157-CC-AT c.547_548delinsAT p.Gly183Ile Missense 4/312 - 2
2-179665160-AC-TG c.544_545delinsCA p.Val182His Missense 4/312 - 2
2-179665165-ATT-CAA c.538_540delinsTTG p.Asn180Leu Missense 4/312 - 1
2-179665166-TT-TG c.538delinsC p.Asn180His Missense 4/312 - 1
2-179665172-G-T c.533C>A p.Ala178Asp Missense 4/312 - 3
2-179665177-TAC-TGT c.526_527delinsAC p.Val176Thr Missense 4/312 - 1
2-179665180-T-G c.525A>C p.Ser175Ser Synonymous 4/312 - 1
2-179665180-TG-TT c.524delinsA p.Ser175* Missense 4/312 - 1
2-179665180-T-A c.525A>T p.Ser175Ser Synonymous 4/312 - 1
2-179665180-T-C c.525A>G p.Ser175Ser Synonymous 4/312 - 1
2-179665181-GA-AG c.523_524delinsCT p.Ser175Leu Missense 4/312 - 1
2-179665182-A-C c.523T>G p.Ser175Ala Missense 4/312 - 1
2-179665187-GT-TG c.517_518delinsCA p.Thr173His Missense 4/312 - 1
2-179665193-G-A c.512C>T p.Ser171Leu Missense 4/312 - 1
2-179665194-A-C c.511T>G p.Ser171Ala Missense 4/312 - 1
2-179665197-C-G c.508G>C p.Asp170His Missense 4/312 - 1
2-179665203-G-C c.502C>G p.Pro168Ala Missense 4/312 - 1
2-179665204-GTA-CAA c.500_501delinsTG p.Tyr167Leu Missense 4/312 - 1
2-179665205-TA-GC c.499_500delinsGC p.Tyr167Ala Missense 4/312 - 1
2-179665205-T-A c.500A>T p.Tyr167Phe Missense 4/312 - 1
2-179665205-TA-CG c.499_500delinsCG p.Tyr167Arg Missense 4/312 - 1
2-179665213-T-G c.492A>C p.Ala164Ala Synonymous 4/312 - 1
2-179665213-T-A c.492A>T p.Ala164Ala Synonymous 4/312 - 1
2-179665213-TGC-TGG c.490delinsC p.Ala164Pro Missense 4/312 - 1
2-179665213-T-C c.492A>G p.Ala164Ala Synonymous 4/312 - 1
2-179665216-AAT-TGG c.487_489delinsCCA p.Ile163Pro Missense 4/312 - 1
2-179665217-AT-GA c.487_488delinsTC p.Ile163Ser Missense 4/312 - 1
2-179665217-AT-GC c.487_488delinsGC p.Ile163Ala Missense 4/312 - 2
2-179665220-AG-GC c.484_485delinsGC p.Leu162Ala Missense 4/312 - 1
2-179665220-A-T c.485T>A p.Leu162Gln Missense 4/312 - 1
2-179665222-TA-GT c.482_483delinsAC p.Leu161Tyr Missense 4/312 - 1
2-179665223-AA-AG c.481delinsC p.Leu161Leu Missense 4/312 - 2
2-179665226-CT-GC c.478_479delinsGC p.Ser160Ala Missense 4/312 - 1
2-179665227-T-A c.478A>T p.Ser160Cys Missense 4/312 - 1
2-179665231-GAG-ATG c.473_474delinsAT p.Leu158His Missense 4/312 - 1
2-179665232-AG-TG c.473delinsA p.Leu158His Missense 4/312 - 2
2-179665235-TC-TG c.469delinsC p.Asp157His Missense 4/312 - 3
2-179665235-T-G c.470A>C p.Asp157Ala Missense 4/312 - 2
2-179665238-CC-AA c.466_467delinsTT p.Gly156Phe Missense 4/312 - 1
2-179665241-T-C c.464A>G p.Glu155Gly Missense 4/312 - 1
2-179665244-TG-GC c.460_461delinsGC p.Gln154Ala Missense 4/312 - 1
2-179665244-T-G c.461A>C p.Gln154Pro Missense 4/312 - 1
2-179665247-G-A c.458C>T p.Ser153Leu Missense 4/312 - 1
2-179665248-A-C c.457T>G p.Ser153Ala Missense 4/312 - 1
2-179665249-A-C c.456T>G p.Ile152Met Missense 4/312 - 1
2-179665250-AT-TG c.454_455delinsCA p.Ile152His Missense 4/312 - 1
2-179665251-T-G c.454A>C p.Ile152Leu Missense 4/312 - 4
2-179665253-T-C c.452A>G p.Gln151Arg Missense 4/312 - 2
2-179665259-T-G c.446A>C p.Asp149Ala Missense 4/312 - 2
2-179665259-TC-TG c.445delinsC p.Asp149His Missense 4/312 - 2
2-179665261-AAG-TGG c.443_444delinsCA p.Leu148Pro Missense 4/312 - 1
2-179665262-AG-TG c.443delinsA p.Leu148His Missense 4/312 - 1
2-179665268-C-G c.437G>C p.Ser146Thr Missense 4/312 - 1
2-179665269-T-A c.436A>T p.Ser146Cys Missense 4/312 - 1
2-179665269-T-C c.436A>G p.Ser146Gly Missense 4/312 - 1
2-179665274-AT-TG c.430_431delinsCA p.Ile144His Missense 4/312 - 1
2-179665278-C-T c.427G>A p.Glu143Lys Missense 4/312 - 1
2-179665283-C-G c.422G>C p.Gly141Ala Missense 4/312 - 1
2-179665288-CCG-TGT c.415_417delinsACA p.Arg139Thr Missense 4/312 - 1
2-179665289-C-T c.416G>A p.Arg139Gln Missense 4/312 - 1
2-179665293-A-G c.412T>C p.Tyr138His Missense 4/312 - 1
2-179665295-A-T c.410T>A p.Phe137Tyr Missense 4/312 - 1
2-179665295-A-G c.410T>C p.Phe137Ser Missense 4/312 - 2
2-179665295-AA-GC c.409_410delinsGC p.Phe137Ala Missense 4/312 - 2
2-179665296-A-G c.409T>C p.Phe137Leu Missense 4/312 - 1
2-179665294-G-T c.411C>A p.Phe137Leu Missense 4/312 - 1
2-179665294-G-C c.411C>G p.Phe137Leu Missense 4/312 - 1
2-179665297-CTT-GAC c.406_408delinsGTC p.Lys136Val Missense 4/312 - 1
2-179665298-TT-TG c.406delinsC p.Lys136Gln Missense 4/312 - 1
2-179665298-T-G c.407A>C p.Lys136Thr Missense 4/312 - 2
2-179665300-CAC-TGT c.403_405delinsACA p.Val135Thr Missense 4/312 - 2
2-179665301-A-G c.404T>C p.Val135Ala Missense 4/312 - 1
2-179665304-A-G c.401T>C p.Val134Ala Missense 4/312 - 1
2-179665308-G-C c.397C>G p.Pro133Ala Missense 4/312 - 1
2-179665311-T-C c.394A>G p.Thr132Ala Missense 4/312 - 2
2-179665322-GT-CT c.383delinsG p.Thr128Ser Missense 4/312 - 1
2-179665332-C-T c.373G>A p.Val125Met Missense 4/312 - 1
2-179665336-GA-AA c.369delinsT p.Leu123Leu Missense 4/312 - 1
2-179665347-G-A c.358C>T p.Gln120* Nonsense 4/312 - 1
2-179665349-CT-CC c.355delinsG p.Ser119Gly Missense 4/312 - 1
2-179665352-C-G c.353G>C p.Gly118Ala Missense 4/312 - 1
2-179665361-A-G c.344T>C p.Val115Ala Missense 4/312 - 1
2-179665364-GT-TG c.340_341delinsCA p.Thr114His Missense 4/312 - 1
2-179665365-T-C c.340A>G p.Thr114Ala Missense 4/312 - 1
2-179665367-A-G c.338T>C p.Met113Thr Missense 4/312 - 1
2-179665368-T-C c.337A>G p.Met113Val Missense 4/312 - 1
2-179665376-AG-GC c.328_329delinsGC p.Leu110Ala Missense 4/312 - 1
2-179665377-G-C c.328C>G p.Leu110Val Missense 4/312 - 1
2-179665383-G-A c.322C>T p.Gln108* Nonsense 4/312 - 1
2-179665391-TT-TG c.313delinsC p.Asn105His Missense 4/312 - 1
2-179665403-G-A c.302C>T p.Thr101Ile Missense 4/312 - 1
2-179665404-T-C c.301A>G p.Thr101Ala Missense 4/312 - 2
2-179666866-TTT-TGT c.293delinsC p.Lys98Thr Missense 3/312 - 1
2-179666870-A-G c.290T>C p.Val97Ala Missense 3/312 - 1
2-179666871-C-T c.289G>A p.Val97Met Missense 3/312 - 1
2-179666874-G-C c.286C>G p.Leu96Val Missense 3/312 - 1
2-179666876-A-G c.284T>C p.Leu95Pro Missense 3/312 - 1
2-179666882-GC-TT c.277_278delinsAA p.Ala93Asn Missense 3/312 - 1
2-179666883-C-G c.277G>C p.Ala93Pro Missense 3/312 - 1
2-179666885-GT-TG c.274_275delinsCA p.Thr92His Missense 3/312 - 2
2-179666889-T-C c.271A>G p.Ser91Gly Missense 3/312 - 1
2-179666893-CGC-TGT c.265_267delinsACA p.Ala89Thr Missense 3/312 - 2
2-179666897-TG-GC c.262_263delinsGC p.Gln88Ala Missense 3/312 - 1
2-179666898-G-C c.262C>G p.Gln88Glu Missense 3/312 - 2
2-179666906-C-T c.254G>A p.Gly85Glu Missense 3/312 - 2
2-179666912-GT-CT c.248delinsG p.Thr83Ser Missense 3/312 - 1
2-179666914-GGC-TGG c.244_246delinsCCA p.Ala82Pro Missense 3/312 - 2
2-179666915-GC-TG c.244_245delinsCA p.Ala82His Missense 3/312 - 1
2-179666915-GC-CT c.244_245delinsAG p.Ala82Ser Missense 3/312 - 1
2-179666915-G-A c.245C>T p.Ala82Val Missense 3/312 - 1
2-179666916-C-A c.244G>T p.Ala82Ser Missense 3/312 - 1
2-179666916-C-T c.244G>A p.Ala82Thr Missense 3/312 - 1
2-179666917-TTT-TGT c.242delinsC p.Lys81Thr Missense 3/312 - 1
2-179666918-T-C c.242A>G p.Lys81Arg Missense 3/312 - 1
2-179666923-GGA-GAG c.235_236delinsCT p.Ser79Leu Missense 3/312 - 1
2-179666924-G-C c.236C>G p.Ser79Cys Missense 3/312 - 1
2-179666924-G-T c.236C>A p.Ser79Tyr Missense 3/312 - 1
2-179666924-GA-CT c.235_236delinsAG p.Ser79Ser Missense 3/312 - 1
2-179666924-GA-CG c.235_236delinsCG p.Ser79Arg Missense 3/312 - 1
2-179666925-A-G c.235T>C p.Ser79Pro Missense 3/312 - 1
2-179666925-A-T c.235T>A p.Ser79Thr Missense 3/312 - 1
2-179666925-A-C c.235T>G p.Ser79Ala Missense 3/312 - 1
2-179666927-TA-CT c.232_233delinsAG p.Tyr78Ser Missense 3/312 - 1
2-179666928-A-C c.232T>G p.Tyr78Asp Missense 3/312 - 1
2-179666929-TCG-TGG c.230delinsC p.Arg77Pro Missense 3/312 - 1
2-179666929-TCG-TGT c.229_230delinsAC p.Arg77Thr Missense 3/312 - 1
2-179666929-TC-AT c.230_231delinsAT p.Arg77His Missense 3/312 - 1
2-179666932-TCC-TGG c.226_227delinsCC p.Gly76Pro Missense 3/312 - 1
2-179666933-C-A c.227G>T p.Gly76Val Missense 3/312 - 2
2-179666938-G-T c.222C>A p.Asn74Lys Missense 3/312 - 1
2-179666938-G-C c.222C>G p.Asn74Lys Missense 3/312 - 1
2-179666941-GGC-ATG c.217_219delinsCAT p.Ala73His Missense 3/312 - 1
2-179666942-GC-TT c.217_218delinsAA p.Ala73Asn Missense 3/312 - 1
2-179666942-GC-TG c.217_218delinsCA p.Ala73His Missense 3/312 - 1
2-179666944-TTT-TGT c.215delinsC p.Lys72Thr Missense 3/312 - 1
2-179666954-G-T c.206C>A p.Ala69Asp Missense 3/312 - 1
2-179666954-GC-TT c.205_206delinsAA p.Ala69Asn Missense 3/312 - 1
2-179666955-C-A c.205G>T p.Ala69Ser Missense 3/312 - 1
2-179666955-C-T c.205G>A p.Ala69Thr Missense 3/312 - 1
2-179666960-A-C c.200T>G p.Ile67Ser Missense 3/312 - 1
2-179666965-CAG-TGT c.193_195delinsACA p.Leu65Thr Missense 3/312 - 1
2-179666965-CAG-ATC c.193_195delinsGAT p.Leu65Asp Missense 3/312 - 1
2-179666967-G-C c.193C>G p.Leu65Val Missense 3/312 - 1
2-179666973-C-T c.187G>A p.Ala63Thr Missense 3/312 - 1
2-179666974-GCG-ATG c.185_186delinsAT p.Arg62His Missense 3/312 - 1
2-179666975-C-T c.185G>A p.Arg62His Missense 3/312 - 1
2-179666979-C-A c.181G>T p.Gly61Cys Missense 3/312 - 2
2-179666981-T-G c.179A>C p.Asp60Ala Missense 3/312 - 1
2-179666984-CT-GA c.175_176delinsTC p.Ser59Ser Missense 3/312 - 1
2-179666985-T-A c.175A>T p.Ser59Cys Missense 3/312 - 1
2-179666988-AAGGAGATCTGCACGCCGGGCAGAGTGGAAGTGGAAATCACCTGGCCAT-A c.125_172del p.Asp42_Phe58delinsVal MultiAAMissense 3/312 - 1
2-179666999-AC-CC c.161delinsG p.Val54Gly Missense 3/312 - 1
2-179667000-C-T c.160G>A p.Val54Met Missense 3/312 - 4
2-179667000-C-A c.160G>T p.Val54Leu Missense 3/312 - 2
2-179667000-C-G c.160G>C p.Val54Leu Missense 3/312 - 2
2-179667006-G-C c.154C>G p.Pro52Ala Missense 3/312 - 1
2-179667007-CAG-AAC c.151_153delinsGTT p.Leu51Val Missense 3/312 - 1
2-179667007-CA-AT c.152_153delinsAT p.Leu51His Missense 3/312 - 1
2-179667008-AG-TG c.152delinsA p.Leu51Gln Missense 3/312 - 1
2-179667008-A-C c.152T>G p.Leu51Arg Missense 3/312 - 1
2-179667008-A-T c.152T>A p.Leu51Gln Missense 3/312 - 1
2-179667011-GT-TG c.148_149delinsCA p.Thr50His Missense 3/312 - 3
2-179667014-GA-GG c.145delinsC p.Ser49Pro Missense 3/312 - 1
2-179667014-G-C c.146C>G p.Ser49Cys Missense 3/312 - 1
2-179667015-A-T c.145T>A p.Ser49Thr Missense 3/312 - 1
2-179667017-GT-TT c.143delinsA p.Thr48Asn Missense 3/312 - 1
2-179667017-GT-TG c.142_143delinsCA p.Thr48His Missense 3/312 - 1
2-179667019-GGA-ATG c.139_141delinsCAT p.Ser47His Missense 3/312 - 1
2-179667019-GGA-GAG c.139_140delinsCT p.Ser47Leu Missense 3/312 - 1
2-179667020-G-C c.140C>G p.Ser47Cys Missense 3/312 - 1
2-179667021-A-C c.139T>G p.Ser47Ala Missense 3/312 - 1
2-179667022-A-C c.138T>G p.Ile46Met Missense 3/312 - 1
2-179667023-AT-TG c.136_137delinsCA p.Ile46His Missense 3/312 - 2
2-179667025-CAC-TTT c.133_135delinsAAA p.Val45Lys Missense 3/312 - 3
2-179667025-CAC-TGT c.133_135delinsACA p.Val45Thr Missense 3/312 - 2
2-179667026-A-G c.134T>C p.Val45Ala Missense 3/312 - 2
2-179667028-CTG-TGT c.130_132delinsACA p.Gln44Thr Missense 3/312 - 2
2-179667029-TG-GC c.130_131delinsGC p.Gln44Ala Missense 3/312 - 2
2-179667029-T-A c.131A>T p.Gln44Leu Missense 3/312 - 1
2-179667035-T-G c.125A>C p.Asp42Ala Missense 3/312 - 1
2-179667037-C-A c.123G>T p.Arg41Ser Missense 3/312 - 1
2-179667037-C-G c.123G>C p.Arg41Ser Missense 3/312 - 1
2-179667037-CCT-TTT c.122_123delinsAA p.Arg41Lys Missense 3/312 - 1
2-179667037-CC-AC c.123delinsT p.Arg41Ser Missense 3/312 - 1
2-179667038-CT-GC c.121_122delinsGC p.Arg41Ala Missense 3/312 - 1
2-179667038-CT-GT c.122delinsC p.Arg41Thr Missense 3/312 - 1
2-179667038-CT-TA c.121_122delinsTA p.Arg41* Nonsense 3/312 - 1
2-179667041-AA-GC c.118_119delinsGC p.Phe40Ala Missense 3/312 - 2
2-179667041-AA-AC c.118delinsG p.Phe40Val Missense 3/312 - 1
2-179667041-A-G c.119T>C p.Phe40Ser Missense 3/312 - 1
2-179667048-T-C c.112A>G p.Ser38Gly Missense 3/312 - 1
2-179667049-CA-AC c.110_111delinsGT p.Val37Gly Missense 3/312 - 1
2-179667056-G-T c.104C>A p.Pro35His Missense 3/312 - 1
2-179667057-G-A c.103C>T p.Pro35Ser Missense 3/312 - 7
2-179667059-AC-TG c.100_101delinsCA p.Val34His Missense 3/312 - 1
2-179667062-G-A c.98C>T p.Pro33Leu Missense 3/312 - 1
2-179667065-A-T c.95T>A p.Phe32Tyr Missense 3/312 - 1
2-179667065-AA-GC c.94_95delinsGC p.Phe32Ala Missense 3/312 - 1
2-179669290-GC-TG c.79_80delinsCA p.Ala27His Missense 2/312 - 1
2-179669290-GC-CT c.79_80delinsAG p.Ala27Ser Missense 2/312 - 1
2-179669293-T-G c.77A>C p.Glu26Ala Missense 2/312 - 2
2-179669294-C-G c.76G>C p.Glu26Gln Missense 2/312 - 1
2-179669296-AA-GC c.73_74delinsGC p.Phe25Ala Missense 2/312 - 2
2-179669296-A-T c.74T>A p.Phe25Tyr Missense 2/312 - 1
2-179669299-G-T c.71C>A p.Thr24Asn Missense 2/312 - 1
2-179669299-GT-GA c.70delinsT p.Thr24Ser Missense 2/312 - 1
2-179669300-T-C c.70A>G p.Thr24Ala Missense 2/312 - 1
2-179669302-G-T c.68C>A p.Ala23Glu Missense 2/312 - 1
2-179669303-C-G c.67G>C p.Ala23Pro Missense 2/312 - 1
2-179669303-C-T c.67G>A p.Ala23Thr Missense 2/312 - 1
2-179669306-T-C c.64A>G p.Thr22Ala Missense 2/312 - 1
2-179669308-CT-GC c.61_62delinsGC p.Ser21Ala Missense 2/312 - 1
2-179669309-T-A c.61A>T p.Ser21Cys Missense 2/312 - 1
2-179669312-C-A c.58G>T p.Gly20Cys Missense 2/312 - 1
2-179669316-CAG-TGT c.52_54delinsACA p.Leu18Thr Missense 2/312 - 1
2-179669319-TAC-TGT c.49_50delinsAC p.Val17Thr Missense 2/312 - 5
2-179669319-TAC-CAT c.49_51delinsATG p.Val17Met Missense 2/312 - 1
2-179669320-AC-CC c.50delinsG p.Val17Gly Missense 2/312 - 1
2-179669322-CAC-TGT c.46_48delinsACA p.Val16Thr Missense 2/312 - 1
2-179669323-AC-TC c.47delinsA p.Val16Glu Missense 2/312 - 1
2-179669326-A-G c.44T>C p.Val15Ala Missense 2/312 - 1
2-179669329-CT-GC c.40_41delinsGC p.Ser14Ala Missense 2/312 - 6
2-179669329-CT-GA c.40_41delinsTC p.Ser14Ser Missense 2/312 - 1
2-179669330-T-A c.40A>T p.Ser14Cys Missense 2/312 - 2
2-179669333-G-T c.37C>A p.Gln13Lys Missense 2/312 - 1
2-179669335-AA-GC c.34_35delinsGC p.Leu12Ala Missense 2/312 - 2
2-179669339-G-C c.31C>G p.Pro11Ala Missense 2/312 - 1
2-179669342-G-A c.28C>T p.Gln10* Nonsense 2/312 - 2
2-179669365-G-A c.5C>T p.Thr2Ile Missense 2/312 - 1
2-179670414-A-G c.-13-1032T>C - IntronicSNV - 1/311 1
2-179672033-C-T c.-108G>A - 5_prime_UTR_variant 1/312 - 1